Canonical Allele Identifier: PA2499251698
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1206295
ClinVar RCV Id: RCV001573771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Glu494Lys
CA349053289
NM_001353961.2:c.1480G>A