Canonical Allele Identifier: PA2828412605
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467951
ClinVar RCV Id: RCV000552388 RCV001770442 RCV002456153 RCV003999272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro854Leu
CA394278313
NM_001370404.1:c.2561C>T