Canonical Allele Identifier: PA2827778743
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 279592
ClinVar RCV Id: RCV000258942
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ala342Glu
CA10602709
NM_001353955.2:c.1025C>A