Allele Registry

Canonical Allele Identifier: PA162616

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122230

RCV000644130

RCV001021539

RCV003628312

RCV003997366

ClinVar Variation:

135384

2837265

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1321Asp	CA019763 NM_000548.5:c.3963G>C CA394297480 NM_000548.5:c.3963G>T