Allele Registry

Canonical Allele Identifier: PA285047

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79471

ClinVar RCV:

RCV000059455

RCV000188842

RCV000636408

ClinVar Variation:

68579

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ile227Ser	CA285045 NM_006920.6:c.680T>G