Allele Registry

Canonical Allele Identifier: PA658681396

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000522751

RCV000644277

RCV001024028

RCV004003612

RCV004541631

ClinVar Variation:

450528

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1799Leu	CA055299 NM_000548.5:c.5396C>T