Canonical Allele Identifier: PA2827773896
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12887
ClinVar RCV Id: RCV000013747 RCV000059402 RCV001091670
ClinVar Variation Id: 3067167
ClinVar RCV Id: RCV003992856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Trp1193Arg
CA256599
NM_001353952.2:c.3577T>C
CA349056162
NM_001353952.2:c.3577T>A