Allele Registry

Canonical Allele Identifier: PA2827009448

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043391

RCV000543604

RCV001022275

ClinVar Variation:

50124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1323Gln	CA020250 NM_001318829.2:c.3968G>A