Canonical Allele Identifier: PA2828094694
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50052
ClinVar RCV Id: RCV000043318 RCV000713940 RCV000989438 RCV002336165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Leu1496Pro
CA020902
NM_001363528.2:c.4487T>C