Canonical Allele Identifier: PA2827788779
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68530
ClinVar RCV Id: RCV000059403 RCV000818870 RCV002054912
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Leu1178Pro
CA284925
NM_001353960.2:c.3533T>C