Canonical Allele Identifier: PA2828091949
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50106
ClinVar RCV Id: RCV000043373 RCV000490930 RCV001240824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Cys696Tyr
CA016643
NM_001363528.2:c.2087G>A