Allele Registry

Canonical Allele Identifier: PA2827015234

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000568648

RCV000644236

RCV001558891

RCV002476253

ClinVar Variation:

486632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gln1175Arg	CA050713 NM_001318831.2:c.3524A>G