Allele Registry

Canonical Allele Identifier: PA107114

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79534

ClinVar RCV:

RCV000059522

RCV001171717

RCV001711166

RCV003588573

RCV003992175

ClinVar Variation:

68642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg1657Cys	CA266117 NM_001165963.4:c.4969C>T