Allele Registry

Canonical Allele Identifier: PA2827000150

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644157

RCV002422324

RCV004004003

ClinVar Variation:

535927

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val67Ile	CA035477 NM_001318827.2:c.199G>A