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: PA645391102

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_000044.2:p.Gly988Glu	CA16043475 NM_000053.4:c.2963G>A