Allele Registry

Canonical Allele Identifier: PA2828421257

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043146

RCV000189937

RCV000644309

RCV001023245

ClinVar Variation:

49880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Asp1593Asn	CA021203 NM_001370405.1:c.4777G>A CA3044590155 NM_001370405.1:c.4777_4779delinsAAT