Allele Registry

Canonical Allele Identifier: PA2827009870

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043318

RCV000713940

RCV000989438

RCV002336165

ClinVar Variation:

50052

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu1447Pro	CA020902 NM_001318829.2:c.4340T>C