Canonical Allele Identifier: PA2827766244
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189968
ClinVar RCV Id: RCV000180922

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Thr1289Arg
CA303438
NM_001353950.2:c.3866C>G