Allele Registry

Canonical Allele Identifier: PA2828093512

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58689

ClinVar RCV:

RCV000042787

RCV000660346

ClinVar Variation:

49527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Gly1161Arg	CA019365 NM_001363528.2:c.3481G>A CA394289756 NM_001363528.2:c.3481G>C