Allele Registry

Canonical Allele Identifier: PA2827008499

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000468858

RCV000575419

RCV001567190

ClinVar Variation:

405953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1006Leu	CA045588 NM_001318829.2:c.3017C>T