Canonical Allele Identifier: PA658705823
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 495270

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Tyr165His
CA349075669
NM_006920.6:c.493T>C