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: PA2826317771

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 456553

ClinVar RCV Id: RCV000532036 RCV001091641 RCV002448619

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230111.1:p.Arg667Trp	CA6989058 NM_001243182.2:c.1999C>T