Canonical Allele Identifier: PA303412
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189960
ClinVar RCV Id: RCV000180914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala342Val
CA303409
NM_006920.6:c.1025C>T