Canonical Allele Identifier: PA2827775661
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68583
ClinVar RCV Id: RCV000059459 RCV003588570
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Trp280Arg
CA285054
NM_001353954.2:c.838T>C
CA349073038
NM_001353954.2:c.838T>A