Canonical Allele Identifier: PA916012649
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 389461
ClinVar RCV Id: RCV000444044 RCV001508048 RCV001861618 RCV002402192 RCV001833557
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Thr574Met
CA10459093
NM_001282224.2:c.1721C>T