Canonical Allele Identifier: PA2825943280
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2770520
ClinVar RCV Id: RCV003580718

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Ser199Arg
CA352153486
NM_001160161.2:c.597T>G
CA352153487
NM_001160161.2:c.597T>A
CA352153492
NM_001160161.2:c.595A>C