Canonical Allele Identifier: PA2825037420
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2571550
ClinVar RCV Id: RCV003312950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Cys720Arg
CA413598545
NM_000052.7:c.2158T>C