Allele Registry

Canonical Allele Identifier: PA2827005756

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000522751

RCV000644277

RCV001024028

RCV004003612

RCV004541631

ClinVar Variation:

450528

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1696Leu	CA055299 NM_001318827.2:c.5087C>T