Canonical Allele Identifier: PA2826011453
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68615
ClinVar RCV Id: RCV000059492 RCV000433130 RCV001854244
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Thr112Ile
CA285126
NM_001165964.3:c.335C>T