Canonical Allele Identifier: PA2827774038
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206811
ClinVar RCV Id: RCV000188932 RCV001375621 RCV002247609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Trp1273Arg
CA317404
NM_001353952.2:c.3817T>C
CA349053995
NM_001353952.2:c.3817T>A