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: PA2827329723

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 495411

ClinVar RCV Id: RCV000589627 RCV001785668

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Gly988Asp	CA388029839 NM_001330579.2:c.2963G>A