Canonical Allele Identifier: PA2827749759
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2101470
ClinVar RCV Id: RCV003016923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val237Leu
CA349073817
NM_001353948.2:c.709G>T
CA349073818
NM_001353948.2:c.709G>C