Canonical Allele Identifier: PA916036709
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461267
ClinVar RCV Id: RCV000556885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ala487Val
CA349053415
NM_001353961.2:c.1460C>T