Allele Registry

Canonical Allele Identifier: PA2828420726

Gene: TSC2 HGNC NCBI

ClinVar Allele:

139127

ClinVar RCV:

RCV000122237

RCV000706466

RCV001022523

ClinVar Variation:

135388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1446Thr	CA020493 NM_001370405.1:c.4336G>A