Canonical Allele Identifier: PA2827770543
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189978
ClinVar RCV Id: RCV000180933 RCV004535159
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Cys916Phe
CA303467
NM_001353951.2:c.2747G>T