Allele Registry

Canonical Allele Identifier: PA2828418272

Gene: TSC2 HGNC NCBI

ClinVar Allele:

27437

ClinVar RCV:

RCV000013207

RCV000042452

ClinVar Variation:

12398

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu717Arg	CA016832 NM_001370405.1:c.2150T>G