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: PA2825038784

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2475812

ClinVar RCV Id: RCV003193265

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Val1140Ile	CA388026812 NM_000053.4:c.3418G>A