Canonical Allele Identifier: PA285107
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68607
ClinVar RCV Id: RCV000059484 RCV001387943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Cys948Arg
CA285105
NM_006920.6:c.2842T>C