Canonical Allele Identifier: PA645505725
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 389297
ClinVar RCV Id: RCV000424008
ClinVar Variation Id: 2663524
ClinVar RCV Id: RCV003442712

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Phe1473Leu
CA16604466
NM_198056.3:c.4417T>C
CA352145251
NM_198056.3:c.4419C>G
CA352145252
NM_198056.3:c.4419C>A