Canonical Allele Identifier: PA2827769607
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 805385
ClinVar RCV Id: RCV000992883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Asp249Val
CA349073631
NM_001353951.2:c.746A>T