Canonical Allele Identifier: PA2827780198
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190014
ClinVar RCV Id: RCV000180970
ClinVar Variation Id: 2734302
ClinVar RCV Id: RCV003588457
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Val1378Leu
CA303554
NM_001353955.2:c.4132G>C
CA349050206
NM_001353955.2:c.4132G>T