Canonical Allele Identifier: PA2827754390
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68641
ClinVar RCV Id: RCV000059520 RCV003233101 RCV003588572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg1648Cys
CA285189
NM_001353948.2:c.4942C>T