Canonical Allele Identifier: PA2827782269
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189917

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Met757Val
CA303300
NM_001353957.2:c.2269A>G