Allele Registry

Canonical Allele Identifier: PA2826011636

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79471

ClinVar RCV:

RCV000059455

RCV000188842

RCV000636408

ClinVar Variation:

68579

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ile227Ser	CA285045 NM_001165964.3:c.680T>G