Allele Registry

Canonical Allele Identifier: PA2827003555

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000163457

RCV000430228

RCV001083093

RCV003995258

ClinVar Variation:

184243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1099Lys	CA019256 NM_001318827.2:c.3295G>A