Canonical Allele Identifier: PA2827778603
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1334456
ClinVar RCV Id: RCV001814639
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Leu253Pro
CA349073567
NM_001353955.2:c.758T>C