Canonical Allele Identifier: PA2827772600
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68580
ClinVar RCV Id: RCV000059456 RCV003588569
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Ala239Thr
CA285048
NM_001353952.2:c.715G>A