Canonical Allele Identifier: PA2827775604
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 444533
ClinVar RCV Id: RCV000513507
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Val250Glu
CA349073616
NM_001353954.2:c.749T>A