Canonical Allele Identifier: PA2827780124
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189990
ClinVar RCV Id: RCV000180946 RCV001219498 RCV002272155
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Leu1340Pro
CA303491
NM_001353955.2:c.4019T>C