Canonical Allele Identifier: PA2828095545
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039590
ClinVar RCV Id: RCV002900008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1716Val
CA394315700
NM_001363528.2:c.5147C>T