Allele Registry

Canonical Allele Identifier: PA2828418233

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76261

ClinVar RCV:

RCV000055552

RCV000494277

RCV000660343

RCV002415509

ClinVar Variation:

65328

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val705Met	CA016792 NM_001370405.1:c.2113G>A