Allele Registry

Canonical Allele Identifier: PA2827773611

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79500

ClinVar RCV:

RCV000059485

RCV000817420

RCV002247464

ClinVar Variation:

68608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Met949Val	CA285108 NM_001353952.2:c.2845A>G