Canonical Allele Identifier: PA285269
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_008851.3:p.Trp1715Arg
CA285267
NM_006920.6:c.5143T>C
CA349068778
NM_006920.6:c.5143T>A