Allele Registry

Canonical Allele Identifier: PA2827005071

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043146

RCV000189937

RCV000644309

RCV001023245

ClinVar Variation:

49880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Asp1533Asn	CA021203 NM_001318827.2:c.4597G>A CA3044590155 NM_001318827.2:c.4597_4599delinsAAT