Canonical Allele Identifier: PA2827750399
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 569331
ClinVar RCV Id: RCV000689931

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Glu385Gln
CA349071102
NM_001353948.2:c.1153G>C