Canonical Allele Identifier: PA2827764538
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189929
ClinVar RCV Id: RCV000180882 RCV001344647 RCV003482238
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Pro757Leu
CA303333
NM_001353950.2:c.2270C>T