Allele Registry

Canonical Allele Identifier: PA266122

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79540

ClinVar RCV:

RCV000059528

RCV001854246

RCV003992176

ClinVar Variation:

68648

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala1674Val	CA266120 NM_006920.6:c.5021C>T