Canonical Allele Identifier: PA2826260568
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000414903
ClinVar Variation:
374394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Val1784Ala
CA16043651
NM_001202435.3:c.5351T>C