Canonical Allele Identifier: PA2827765348
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189905
ClinVar RCV Id: RCV000180857 RCV000188906
ClinVar Variation Id: 967462
ClinVar RCV Id: RCV001242378
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Phe984Leu
CA303267
NM_001353950.2:c.2952T>G
CA349060532
NM_001353950.2:c.2952T>A
CA349060540
NM_001353950.2:c.2950T>C