Allele Registry

Canonical Allele Identifier: PA2827789058

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000482328

RCV002525772

ClinVar Variation:

418476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Val1337Leu	CA16617293 NM_001353960.2:c.4009G>T CA349050477 NM_001353960.2:c.4009G>C