Canonical Allele Identifier: PA206237
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 210393
ClinVar RCV Id: RCV000193020 RCV000534012 RCV002277449 RCV001274230 RCV001573423 RCV002314787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ile506Val
CA206236
NM_000052.7:c.1516A>G