Canonical Allele Identifier: PA2827777768
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12894
ClinVar RCV Id: RCV001296128 RCV000013754 RCV000013755
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Thr1697Ile
CA256611
NM_001353954.2:c.5090C>T