Canonical Allele Identifier: PA2827790176
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000022765
ClinVar Variation:
29884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg48Gly
CA281752
NM_001353961.2:c.142C>G