Allele Registry

Canonical Allele Identifier: PA2828421213

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000524930

RCV001023171

RCV001921077

RCV003167182

RCV003999320

RCV004529046

ClinVar Variation:

468118

1415786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr1580Ser	CA052981 NM_001370405.1:c.4738A>T CA394308289 NM_001370405.1:c.4739C>G