Canonical Allele Identifier: PA2827785774
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 521780
ClinVar RCV Id: RCV000624256 RCV001543134 RCV002510935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Pro1149Arg
CA1942938
NM_001353958.2:c.3446C>G