Canonical Allele Identifier: PA2826013266
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190014
ClinVar RCV Id: RCV000180970
ClinVar Variation Id: 2734302
ClinVar RCV Id: RCV003588457

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Val1362Leu
CA303554
NM_001165964.3:c.4084G>C
CA349050206
NM_001165964.3:c.4084G>T