Allele Registry

Canonical Allele Identifier: PA2828416501

Gene: TSC2 HGNC NCBI

ClinVar Allele:

184114

ClinVar RCV:

RCV000167112

RCV000233190

RCV001721086

RCV003995559

ClinVar Variation:

187388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala210Val	CA022710 NM_001370405.1:c.629C>T