Allele Registry

Canonical Allele Identifier: PA2829979419

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042787

RCV000660346

ClinVar Variation:

49527

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Gly1161Arg	CA019365 NM_021055.3:c.3481G>A CA394289756 NM_021055.3:c.3481G>C