Canonical Allele Identifier: PA658674574
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 453061
ClinVar RCV Id: RCV000520631 RCV001834711 RCV002527654
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ile347Thr
CA10458987
NM_000052.7:c.1040T>C