Canonical Allele Identifier: PA2826011670
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189982
ClinVar RCV Id: RCV000180938
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Asp249Glu
CA303474
NM_001165964.3:c.747T>G
CA349073628
NM_001165964.3:c.747T>A