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: PA2825279786

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 591446

ClinVar RCV Id: RCV000722625 RCV003999875

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.Val790Met	CA388032133 NM_001005918.3:c.2368G>A