Canonical Allele Identifier: PA2827788949
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68625
ClinVar RCV Id: RCV000059503 RCV000188936 RCV001786331 RCV001220193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Leu1280Phe
CA266111
NM_001353960.2:c.3838C>T