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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA557395889
Gene: CYP4V2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1206817614
gnomAD v2:
4-187112954-AC-A
gnomAD v4:
4-186191800-AC-A
MyVariant Identifiers:
chr4:g.187112955del (hg19)
chr4:g.186191801del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186191804del , CM000666.2:g.186191804del
GRCh38
NC_000004.11:g.187112958del , CM000666.1:g.187112958del
GRCh37
NC_000004.10:g.187349952del
NCBI36
NG_007965.1:g.5285del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378802.5:c.-20del
MANE Select
ENSP00000368079.4:n.-20del
ENST00000378802.4:c.-20del
ENSP00000368079.4:n.-20del
NM_207352.3:c.-20del
NP_997235.3:n.-20del
XM_005262935.2:c.-20del
XP_005262992.1:n.-20del
XM_005262935.4:c.-20del
XP_005262992.1:n.-20del
XM_017008037.1:c.-330del
XP_016863526.1:n.-330del
NM_207352.4:c.-20del
MANE Select
NP_997235.3:n.-20del
Search 100 bp 5'
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