Canonical Allele Identifier: PA2573193123
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1477836
ClinVar RCV Id: RCV001971790
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ala598Val
CA413597192
NM_001282224.2:c.1793C>T