Canonical Allele Identifier: PA2825037331
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2489350
ClinVar RCV Id: RCV003205729

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ala629Val
CA10459155
NM_000052.7:c.1886C>T