Canonical Allele Identifier: PA2827786241
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68544
ClinVar RCV Id: RCV000059418 RCV000812820 RCV003224861
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Pro1423Leu
CA284961
NM_001353958.2:c.4268C>T