Canonical Allele Identifier: PA2827776556
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_001340883.1:p.Phe933Leu
CA284907
NM_001353954.2:c.2797T>C
CA349061248
NM_001353954.2:c.2799C>G
CA349061250
NM_001353954.2:c.2799C>A