Canonical Allele Identifier: PA916036974
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68848
ClinVar RCV Id: RCV000059813
ClinVar Variation Id: 2585306
ClinVar RCV Id: RCV003337922

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Trp912Arg
CA285267
NM_001353961.2:c.2734T>C
CA349068778
NM_001353961.2:c.2734T>A