Canonical Allele Identifier: PA2827784343
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68529
ClinVar RCV Id: RCV000059401
ClinVar Variation Id: 280476
ClinVar RCV Id: RCV000364532 RCV000986918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg118Ser
CA284922
NM_001353958.2:c.354G>C
CA10602815
NM_001353958.2:c.354G>T