Canonical Allele Identifier: PA2827761769
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189965
ClinVar RCV Id: RCV000180919 RCV003480074
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Leu1828Val
CA303429
NM_001353949.2:c.5482C>G