Canonical Allele Identifier: PA2827771858
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059533
ClinVar Variation:
68653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Asp1731Gly
CA266123
NM_001353951.2:c.5192A>G