Canonical Allele Identifier: PA2827775603
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 805385
ClinVar RCV Id: RCV000992883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Asp249Val
CA349073631
NM_001353954.2:c.746A>T