Canonical Allele Identifier: PA2828416295
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49898
ClinVar RCV Id: RCV000043165 RCV000476314 RCV000431983 RCV002326763 RCV002287356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Phe143Leu
CA020223
NM_001370405.1:c.429C>G
CA394307282
NM_001370405.1:c.427T>C
CA394307299
NM_001370405.1:c.429C>A