Canonical Allele Identifier: PA2827782118
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2190586
ClinVar RCV Id: RCV002628141 RCV003328715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser623Arg
CA349067399
NM_001353957.2:c.1869T>G
CA349067400
NM_001353957.2:c.1869T>A
CA349067406
NM_001353957.2:c.1867A>C