Allele Registry

Canonical Allele Identifier: PA2828416629

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042644

RCV000554931

RCV000612409

RCV002288539

RCV002381326

RCV003460556

ClinVar Variation:

49384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr246Ala	CA022910 NM_001370405.1:c.736A>G