Canonical Allele Identifier: PA2827759293
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059494
ClinVar Variation:
68617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Thr1199Lys
CA285129
NM_001353949.2:c.3596C>A