Canonical Allele Identifier: PA2827784175
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 331880
ClinVar RCV Id: RCV001850783 RCV000287432 RCV000379513 RCV001133022
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Glu1970Gln
CA10611199
NM_001353957.2:c.5908G>C