Canonical Allele Identifier: PA2827012244
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49812
ClinVar RCV Id: RCV000043078 RCV002326761 RCV001852896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1292Leu
CA020086
NM_001318829.2:c.3874G>C
CA394300056
NM_001318829.2:c.3874G>T