Canonical Allele Identifier: PA2741850762
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2571550
ClinVar RCV Id: RCV003312950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Cys720Arg
CA413598545
NM_001282224.2:c.2158T>C