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: PA2573159682

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1685251

ClinVar RCV Id: RCV002248978

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Asn1270Ile	CA6988565 NM_000053.4:c.3809A>T