Canonical Allele Identifier: PA2827757102
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206935
ClinVar RCV Id: RCV000189079
ClinVar Variation Id: 2846673
ClinVar RCV Id: RCV003754649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Phe402Leu
CA317779
NM_001353949.2:c.1204T>C
CA349070981
NM_001353949.2:c.1206T>G
CA349070982
NM_001353949.2:c.1206T>A