Canonical Allele Identifier: PA2828093412
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486630
ClinVar RCV Id: RCV000573474 RCV000644372 RCV001722537 RCV004001154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1131Gln
CA047301
NM_001363528.2:c.3392G>A