Canonical Allele Identifier: PA2827771111
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 944887
ClinVar RCV Id: RCV001215386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Arg1314Ser
CA349052983
NM_001353951.2:c.3942A>T
CA349052985
NM_001353951.2:c.3942A>C