Canonical Allele Identifier: PA2826010474
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000986878
ClinVar Variation:
202173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Ile1482Leu
CA275462
NM_001165963.4:c.4444A>C