Canonical Allele Identifier: PA2827784252
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68513
ClinVar RCV Id: RCV000059385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Phe63Leu
CA284883
NM_001353958.2:c.187T>C
CA349242879
NM_001353958.2:c.189T>G
CA349242881
NM_001353958.2:c.189T>A