Allele Registry

Canonical Allele Identifier: PA2828414402

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190079

RCV000695662

RCV001022271

RCV003462296

RCV003996900

ClinVar Variation:

207785

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg1394Trp	CA050835 NM_001370404.1:c.4180C>T