Canonical Allele Identifier: PA2580187507
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2489350
ClinVar RCV Id: RCV003205729

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ala629Val
CA10459155
NM_001282224.2:c.1886C>T