Canonical Allele Identifier: PA2828412251
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207727
ClinVar RCV Id: RCV000189996 RCV000563830 RCV001087821 RCV001117540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg749Gln
CA037732
NM_001370404.1:c.2246G>A