Canonical Allele Identifier: PA2827785354
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 29884
ClinVar RCV Id: RCV000022765

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg834Gly
CA281752
NM_001353958.2:c.2500C>G