Allele Registry

Canonical Allele Identifier: PA2827019374

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000535896

RCV001021475

RCV001705074

RCV003996893

ClinVar Variation:

207749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu1257Asp	CA049654 NM_001318832.2:c.3771G>T CA394297301 NM_001318832.2:c.3771G>C