Canonical Allele Identifier: PA2827772597
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059457
ClinVar Variation:
68581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Ala239Val
CA285051
NM_001353952.2:c.716C>T