Allele Registry

Canonical Allele Identifier: PA2825437446

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644263

RCV000765272

RCV001020148

RCV003222074

ClinVar Variation:

536003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1083Gln	CA046441 NM_001077183.3:c.3248G>A