Allele Registry

Canonical Allele Identifier: PA2827003948

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000122230

RCV000644130

RCV001021539

RCV003628312

RCV003997366

ClinVar Variation:

135384

2837265

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1218Asp	CA019763 NM_001318827.2:c.3654G>C CA394297480 NM_001318827.2:c.3654G>T