Allele Registry

Canonical Allele Identifier: PA2828415582

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190042

RCV001084515

RCV002257483

RCV003153466

RCV004537599

ClinVar Variation:

207760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg1707His	CA054581 NM_001370404.1:c.5120G>A