Allele Registry

Canonical Allele Identifier: PA913196202

Gene: SCN4A HGNC NCBI

ClinVar Allele:

613096

ClinVar RCV:

RCV000761999

RCV001807649

ClinVar Variation:

623937

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Leu689Phe	CA400631288 NM_000334.4:c.2065C>T