Canonical Allele Identifier: PA2827775230
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 331880
ClinVar RCV Id: RCV001850783 RCV000287432 RCV000379513 RCV001133022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Glu1987Gln
CA10611199
NM_001353952.2:c.5959G>C