Allele Registry

Canonical Allele Identifier: PA2827001483

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75831

ClinVar RCV:

RCV000055102

RCV003441735

RCV003512005

ClinVar Variation:

64901

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu491Pro	CA015160 NM_001318827.2:c.1472T>C