Canonical Allele Identifier: PA2827752779
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68532
ClinVar RCV Id: RCV000059405 RCV000723903 RCV001476333 RCV001836728
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Glu1238Asp
CA234849
NM_001353948.2:c.3714A>C
CA349054671
NM_001353948.2:c.3714A>T