Allele Registry

Canonical Allele Identifier: PA2827006190

Gene: TSC2 HGNC NCBI

ClinVar Allele:

184114

ClinVar RCV:

RCV000167112

RCV000233190

RCV001721086

RCV003995559

ClinVar Variation:

187388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala161Val	CA022710 NM_001318829.2:c.482C>T