Allele Registry

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.

Canonical Allele Identifier: PA2826252782

Gene: PMEL HGNC NCBI

Linked Data

ClinVar Variation Id: 2569247

ClinVar RCV Id: RCV004332853

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001186983.1:p.Thr401Ile