Canonical Allele Identifier: PA2826258252
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 444533
ClinVar RCV Id: RCV000513507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Val250Glu
CA349073616
NM_001202435.3:c.749T>A