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: PA2825038782

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1134697

ClinVar RCV Id: RCV001469712 RCV001579789 RCV001820163

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Ala1139Gly	CA6988690 NM_000053.4:c.3416C>G