Canonical Allele Identifier: PA285266
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68675
ClinVar RCV Id: RCV000059555 RCV000997286 RCV001129824 RCV001129823 RCV001393043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr297Ile
CA285264
NM_006920.6:c.890C>T