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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:
CA2672891827
Gene: CYP4V2
HGNC
NCBI
Linked Data
gnomAD v4:
4-186191696-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186191700del , CM000666.2:g.186191700del
GRCh38
NC_000004.11:g.187112854del , CM000666.1:g.187112854del
GRCh37
NC_000004.10:g.187349848del
NCBI36
NG_007965.1:g.5181del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378802.5:c.-124del
MANE Select
ENSP00000368079.4:n.-124del
ENST00000378802.4:c.-124del
ENSP00000368079.4:n.-124del
NM_207352.3:c.-124del
NP_997235.3:n.-124del
XM_005262935.2:c.-124del
XP_005262992.1:n.-124del
XM_017008037.1:c.-434del
XP_016863526.1:n.-434del
NM_207352.4:c.-124del
MANE Select
NP_997235.3:n.-124del
Search 100 bp 5'
Search 100 bp 3'