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: PA2825280132

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3849

ClinVar RCV Id: RCV000004053 RCV001507825

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.Gly1059Arg	CA252890 NM_001005918.3:c.3175G>A CA388022028 NM_001005918.3:c.3175G>C