Allele Registry

Canonical Allele Identifier: PA2827003916

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000535896

RCV001021475

RCV001705074

RCV003996893

ClinVar Variation:

207749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1210Asp	CA049654 NM_001318827.2:c.3630G>T CA394297301 NM_001318827.2:c.3630G>C