Allele Registry

Canonical Allele Identifier: PA916022890

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190017

RCV001019560

RCV001085830

RCV004537596

ClinVar Variation:

207743

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gly999Ser	CA319506 NM_001318829.2:c.2995G>A