Allele Registry

Canonical Allele Identifier: PA2828089843

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042470

RCV000055051

RCV000575144

RCV000589638

RCV001084150

RCV001729369

ClinVar Variation:

49212

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ala84Val	CA017545 NM_001363528.2:c.251C>T