Allele Registry

Canonical Allele Identifier: PA658800591

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000654668

RCV001572484

RCV002477459

ClinVar Variation:

543814

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Gly529Cys	CA8709800 NM_000334.4:c.1585G>T