Allele Registry

Canonical Allele Identifier: PA2827005217

Gene: TSC2 HGNC NCBI

ClinVar Allele:

27432

ClinVar RCV:

RCV000013201

RCV000043065

RCV000055436

RCV000493720

RCV002345240

RCV002496339

ClinVar Variation:

12393

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Pro1572Leu	CA021526 NM_001318827.2:c.4715C>T