Allele Registry

Canonical Allele Identifier: PA2827771238

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187749

2898632

ClinVar RCV:

RCV000180970

RCV003588457

ClinVar Variation:

190014

2734302

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Val1379Leu	CA303554 NM_001353951.2:c.4135G>C CA349050206 NM_001353951.2:c.4135G>T