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: PA2827326755

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 35720

ClinVar RCV Id: RCV000029369 RCV000078051 RCV001354257 RCV002453268

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317507.1:p.Val1062Ala	CA145685 NM_001330578.2:c.3185T>C