Canonical Allele Identifier: PA2827922760
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 178130
ClinVar RCV Id: RCV000154839 RCV000729899 RCV001145076 RCV001147028 RCV000852964 RCV001147029 RCV001842482 RCV001145077 RCV001147026 RCV001147027 RCV002321640
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Ala1087Thr
CA016979
NM_001354701.2:c.3259G>A