Canonical Allele Identifier: PA2827772904
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68508
ClinVar RCV Id: RCV000059380 RCV002345371 RCV002514305
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Phe403Leu
CA284874
NM_001353952.2:c.1207T>C
CA349070974
NM_001353952.2:c.1209T>G
CA349070975
NM_001353952.2:c.1209T>A