Allele Registry

Canonical Allele Identifier: PA2827009220

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu1245Lys	CA050377 NM_001318829.2:c.3733G>A