Canonical Allele Identifier: PA2825438334
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_001070651.1:p.Val1340Leu
CA020086
NM_001077183.3:c.4018G>C
CA394300056
NM_001077183.3:c.4018G>T