Canonical Allele Identifier: PA206479
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 210477
ClinVar RCV Id: RCV000193172 RCV000546821 RCV001572994 RCV002277452 RCV002314788
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ile189Val
CA206478
NM_000052.7:c.565A>G