Canonical Allele Identifier: PA2828094643
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49479
ClinVar RCV Id: RCV000042739 RCV000412893 RCV001036250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Tyr1483Cys
CA020809
NM_001363528.2:c.4448A>G