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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:
CA649568875
Gene: CYP4V2
HGNC
NCBI
Linked Data
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186191804dup , CM000666.2:g.186191804dup
GRCh38
NC_000004.11:g.187112958dup , CM000666.1:g.187112958dup
GRCh37
NC_000004.10:g.187349952dup
NCBI36
NG_007965.1:g.5285dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378802.5:c.-20dup
MANE Select
ENSP00000368079.4:n.-20dup
ENST00000378802.4:c.-20dup
ENSP00000368079.4:n.-20dup
NM_207352.3:c.-20dup
NP_997235.3:n.-20dup
XM_005262935.2:c.-20dup
XP_005262992.1:n.-20dup
XM_005262935.4:c.-20dup
XP_005262992.1:n.-20dup
XM_017008037.1:c.-330dup
XP_016863526.1:n.-330dup
NM_207352.4:c.-20dup
MANE Select
NP_997235.3:n.-20dup
Search 100 bp 5'
Search 100 bp 3'