Canonical Allele Identifier: PA2827761478
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059442
ClinVar Variation:
68567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Gly1751Glu
CA285012
NM_001353949.2:c.5252G>A