Canonical Allele Identifier: PA2827773591
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059482
ClinVar Variation:
68605
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Trp941Gly
CA285099
NM_001353952.2:c.2821T>G