Canonical Allele Identifier: PA2826012322
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180853
ClinVar Variation:
189901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Trp726Leu
CA303254
NM_001165964.3:c.2177G>T