Canonical Allele Identifier: PA2827786698
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059439
ClinVar Variation:
68564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Met1686Arg
CA285003
NM_001353958.2:c.5057T>G