Allele Registry

Canonical Allele Identifier: PA2828418277

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000460097

RCV002256248

RCV003153598

RCV003320645

ClinVar Variation:

406077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg718Cys	CA036889 NM_001370405.1:c.2152C>T