Canonical Allele Identifier: PA2827750389
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 390676
ClinVar RCV Id: RCV000420406 RCV000636430
ClinVar Variation Id: 2734313
ClinVar RCV Id: RCV003588468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Trp384Arg
CA16603948
NM_001353948.2:c.1150T>A
CA349071110
NM_001353948.2:c.1150T>C