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: PA2826317626

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2580450

ClinVar RCV Id: RCV003329645

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230111.1:p.Gln569His	CA388025229 NM_001243182.2:c.1707G>T CA388025230 NM_001243182.2:c.1707G>C