Canonical Allele Identifier: PA2827785485
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68522
ClinVar RCV Id: RCV000059394
ClinVar Variation Id: 838246
ClinVar RCV Id: RCV001039756 RCV001809961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Phe917Leu
CA284907
NM_001353958.2:c.2749T>C
CA349061248
NM_001353958.2:c.2751C>G
CA349061250
NM_001353958.2:c.2751C>A