Canonical Allele Identifier: PA2827788722
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194721
ClinVar RCV Id: RCV000188914 RCV000515245 RCV000724750 RCV001444749 RCV001132318 RCV002336423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ala1132Thr
CA240854
NM_001353960.2:c.3394G>A