Canonical Allele Identifier: PA2827789745
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180829
ClinVar Variation:
189876
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Asp1726Gly
CA303182
NM_001353960.2:c.5177A>G