Allele Registry

Canonical Allele Identifier: PA319541

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203201

ClinVar RCV:

RCV000725350

RCV001314556

RCV002336506

ClinVar Variation:

207757

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1634Cys	CA053034 NM_000548.5:c.4900C>T