Canonical Allele Identifier: PA248049
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68587
ClinVar RCV Id: RCV000059463 RCV000180562 RCV002514306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Val406Phe
CA248047
NM_006920.6:c.1216G>T