Canonical Allele Identifier: PA2827787492
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 940560
ClinVar RCV Id: RCV001210172

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ala239Gly
CA349073780
NM_001353960.2:c.716C>G