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: PA2827329726

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 495413

ClinVar RCV Id: RCV000588068 RCV001829614

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Ala990Val	CA388029823 NM_001330579.2:c.2969C>T