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: PA2825279121

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 92390

ClinVar RCV Id: RCV000436240 RCV001001253 RCV003935015

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.Ile210Val	CA220311 NM_001005918.3:c.628A>G