Canonical Allele Identifier: PA2827778742
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189960
ClinVar RCV Id: RCV000180914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ala342Val
CA303409
NM_001353955.2:c.1025C>T