Allele Registry

Canonical Allele Identifier: PA330220

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000058763

RCV000515650

ClinVar Variation:

67977

446418

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Met1765Leu	CA019076 NM_000335.5:c.5293A>C CA352141606 NM_000335.5:c.5293A>T