Canonical Allele Identifier: PA2827754728
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059439
ClinVar Variation:
68564
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Met1714Arg
CA285003
NM_001353948.2:c.5141T>G