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: PA2826318052

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 374060

ClinVar RCV Id: RCV000415306 RCV001198322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230111.1:p.Gly877Glu	CA16043475 NM_001243182.2:c.2630G>A