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: PA091937

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 420002

ClinVar RCV Id: RCV000631248 RCV001263514 RCV000587060 RCV002525825

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Leu641Ser	CA6989172 NM_000053.4:c.1922T>C