Allele Registry

Canonical Allele Identifier: PA2827010757

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000538231

RCV002350303

ClinVar Variation:

468165

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val130Met	CA055211 NM_001318829.2:c.388G>A