Allele Registry

Canonical Allele Identifier: PA2827008748

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000163457

RCV000430228

RCV001083093

RCV003995258

ClinVar Variation:

184243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu1087Lys	CA019256 NM_001318829.2:c.3259G>A