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: PA645511271

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 35719

ClinVar RCV Id: RCV000029368 RCV000244000 RCV002321488 RCV003390701

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.His827Arg	CA260138 NM_001005918.3:c.2480A>G