Canonical Allele Identifier: PA916036739
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189990
ClinVar RCV Id: RCV000180946 RCV001219498 RCV002272155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu538Pro
CA303491
NM_001353961.2:c.1613T>C