Canonical Allele Identifier: PA185145
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 179791
ClinVar RCV Id: RCV000156589 RCV000765742 RCV001842493 RCV003546483
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Ala51Val
CA014919
NM_001099404.2:c.152C>T