Canonical Allele Identifier: PA2827785943
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_001340887.1:p.Trp1256Arg
CA317404
NM_001353958.2:c.3766T>C
CA349053995
NM_001353958.2:c.3766T>A