Canonical Allele Identifier: PA2741850729
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2928898
ClinVar RCV Id: RCV003781624

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Arg508Gln
CA413595110
NM_001282224.2:c.1523G>A