Canonical Allele Identifier: PA303353
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189934
ClinVar RCV Id: RCV000180887 RCV000188845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Cys257Arg
CA303350
NM_006920.6:c.769T>C