Canonical Allele Identifier: PA916036582
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_001340877.1:p.Glu1998Gln
CA10611199
NM_001353948.2:c.5992G>C