Allele Registry

Canonical Allele Identifier: PA2828416851

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000166873

RCV000553448

RCV001762388

RCV003995539

ClinVar Variation:

187173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ser315Leu	CA023151 NM_001370405.1:c.944C>T