Allele Registry

Canonical Allele Identifier: PA264401

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75831

ClinVar RCV:

RCV000055102

RCV003441735

RCV003512005

ClinVar Variation:

64901

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu528Pro	CA015160 NM_000548.5:c.1583T>C