Allele Registry

Canonical Allele Identifier: PA2827790284

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059478

RCV000519717

RCV003992313

ClinVar Variation:

68601

451108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.His125Gln	CA285090 NM_001353961.2:c.375C>G CA349061306 NM_001353961.2:c.375C>A