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: PA2827329877

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 312380

ClinVar RCV Id: RCV000372640 RCV000780935 RCV003151766

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Pro1057Arg	CA6988687 NM_001330579.2:c.3170C>G