Allele Registry

Canonical Allele Identifier: PA2827923106

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000058614

RCV000148841

RCV000176338

RCV000243761

RCV000987205

RCV001842355

ClinVar Variation:

67836

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Leu1307Phe	CA017626 NM_001354701.2:c.3919C>T CA085417 NM_001354701.2:c.[3919C>T;703+223G>A]