Allele Registry

Canonical Allele Identifier: PA2827003371

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644263

RCV000765272

RCV001020148

RCV003222074

ClinVar Variation:

536003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1047Gln	CA046441 NM_001318827.2:c.3140G>A