Canonical Allele Identifier: PA916036846
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206839
ClinVar RCV Id: RCV000188964 RCV000986876 RCV001085148 RCV002317151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Pro705Leu
CA317501
NM_001353961.2:c.2114C>T