Allele Registry

Canonical Allele Identifier: PA2827000775

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000528235

RCV001019094

RCV001355181

RCV003999343

ClinVar Variation:

468192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu272Phe	CA394315433 NM_001318827.2:c.814C>T