Canonical Allele Identifier: PA2827769535
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375512
ClinVar RCV Id: RCV000416974

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Ser228Pro
CA16044315
NM_001353951.2:c.682T>C