Allele Registry

Canonical Allele Identifier: PA2828420589

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000465620

RCV001022340

RCV001568800

ClinVar Variation:

406124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1408Cys	CA050953 NM_001370405.1:c.4222C>T