Canonical Allele Identifier: PA916036841
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180875
ClinVar Variation:
189923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ser702Trp
CA303318
NM_001353961.2:c.2105C>G