Allele Registry

Canonical Allele Identifier: PA916022819

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042825

RCV000122221

RCV000163970

RCV000727358

RCV001086743

RCV004541223

ClinVar Variation:

49565

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val967Ala	CA018645 NM_001318827.2:c.2900T>C