Canonical Allele Identifier: PA2827775567
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68579
ClinVar RCV Id: RCV000059455 RCV000636408 RCV000188842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Ile227Ser
CA285045
NM_001353954.2:c.680T>G