Canonical Allele Identifier: PA107802
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059539
ClinVar Variation:
68659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Ile1782Met
CA285234
NM_001165963.4:c.5346C>G