Allele Registry

Canonical Allele Identifier: PA2828418951

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055272

RCV000533205

RCV000574785

RCV001531839

ClinVar Variation:

65065

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg917Gln	CA018086 NM_001370405.1:c.2750G>A