Canonical Allele Identifier: PA2827763638
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206762
ClinVar RCV Id: RCV000188865 RCV001320100 RCV001134812 RCV001134813 RCV001775093
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Thr398Met
CA317213
NM_001353950.2:c.1193C>T