Canonical Allele Identifier: PA916012645
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 392682
ClinVar RCV Id: RCV000430636 RCV001454784
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Glu544Gln
CA10459074
NM_001282224.2:c.1630G>C