Canonical Allele Identifier: PA2827787118
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530488
ClinVar RCV Id: RCV000636369

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ser1950Thr
CA349063156
NM_001353958.2:c.5848T>A