Allele Registry

Canonical Allele Identifier: PA2827011199

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545413

RCV001012884

ClinVar Variation:

467892

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Thr528Ile	CA033165 NM_001318829.2:c.1583C>T