Canonical Allele Identifier: PA2573250930
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1440271
ClinVar RCV Id: RCV001950364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Leu247Pro
CA349073664
NM_006920.6:c.740T>C