Canonical Allele Identifier: PA108211
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68522
ClinVar RCV Id: RCV000059394
ClinVar Variation Id: 838246
ClinVar RCV Id: RCV001039756 RCV001809961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Phe945Leu
CA284907
NM_001165963.4:c.2833T>C
CA349061248
NM_001165963.4:c.2835C>G
CA349061250
NM_001165963.4:c.2835C>A