Allele Registry

Canonical Allele Identifier: PA2825496989

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000058763

RCV000515650

ClinVar Variation:

67977

446418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Met1748Leu	CA019076 NM_001099405.2:c.5242A>C CA352141606 NM_001099405.2:c.5242A>T