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: PA2825279922

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 495412

ClinVar RCV Id: RCV000586978 RCV002223878

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.Leu876Phe	CA388029024 NM_001005918.3:c.2626C>T