Canonical Allele Identifier: PA2826011677
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1511616
ClinVar RCV Id: RCV002043376

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Met251Leu
CA349073604
NM_001165964.3:c.751A>T
CA349073609
NM_001165964.3:c.751A>C