Canonical Allele Identifier: PA2827790261
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189869
ClinVar RCV Id: RCV000180822 RCV000412755 RCV000457088 RCV000763459 RCV002281565
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg117His
CA303154
NM_001353961.2:c.350G>A