Allele Registry

Canonical Allele Identifier: PA2825129533

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV003657590

ClinVar Variation:

1485298

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Val595Leu	CA352146177 NM_000335.5:c.1783G>T CA352146178 NM_000335.5:c.1783G>C