Canonical Allele Identifier: PA645505368
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242196
ClinVar RCV Id: RCV000261453 RCV000283704 RCV000372478 RCV000323546 RCV000380484 RCV000341019 RCV001094829 RCV001843002 RCV002450713 RCV003654243
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Val1181Ala
CA062009
NM_198056.3:c.3542T>C