Canonical Allele Identifier: PA2826013212
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189942
ClinVar RCV Id: RCV000180895 RCV002515210
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Ser1334Arg
CA303364
NM_001165964.3:c.4002C>G
CA349050513
NM_001165964.3:c.4002C>A
CA349050537
NM_001165964.3:c.4000A>C