Allele Registry

Canonical Allele Identifier: PA2828094269

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000465620

RCV001022340

RCV001568800

ClinVar Variation:

406124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1385Cys	CA050953 NM_001363528.2:c.4153C>T