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: PA2827325716

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3071314

ClinVar RCV Id: RCV004014816

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001317507.1:p.Ala638Val