Canonical Allele Identifier: PA2827788947
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68534
ClinVar RCV Id: RCV000059407 RCV000118242 RCV000188828 RCV001133131 RCV001080063 RCV001133132 RCV002313742 RCV004542732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Glu1279Asp
CA231476
NM_001353960.2:c.3837A>T
CA349053270
NM_001353960.2:c.3837A>C