Allele Registry

Canonical Allele Identifier: PA2828417710

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545413

RCV001012884

ClinVar Variation:

467892

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr577Ile	CA033165 NM_001370405.1:c.1730C>T