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: PA2580203328

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1702720

ClinVar RCV Id: RCV002279038

ClinVar Variation Id: 2124458

ClinVar RCV Id: RCV003057170

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317507.1:p.Met962Leu	CA388030333 NM_001330578.2:c.2884A>T CA388030341 NM_001330578.2:c.2884A>C