Canonical Allele Identifier: PA2827783393
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 69406
ClinVar RCV Id: RCV000209885 RCV000494091 RCV000702992 RCV004528267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser1488Leu
CA357173
NM_001353957.2:c.4463C>T