Canonical Allele Identifier: PA2828095445
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536110
ClinVar RCV Id: RCV001023842 RCV001513329 RCV004004052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1693Val
CA054932
NM_001363528.2:c.5078C>T