Allele Registry

Canonical Allele Identifier: PA2827019721

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034657

RCV000054871

RCV000566784

RCV000606975

RCV000768352

RCV001082570

RCV004534723

ClinVar Variation:

41740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1353Trp	CA020096 NM_001318832.2:c.4057C>T