Canonical Allele Identifier: PA2827750522
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059381
ClinVar Variation:
68509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Tyr413Asn
CA284877
NM_001353948.2:c.1237T>A