Canonical Allele Identifier: PA2573205626
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1438278
ClinVar RCV Id: RCV001957807 RCV003322907
ClinVar Variation Id: 2857930
ClinVar RCV Id: RCV003754843
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Phe716Leu
CA349072365
NM_001353961.2:c.2148T>G
CA349072366
NM_001353961.2:c.2148T>A
CA349072371
NM_001353961.2:c.2146T>C