Allele Registry

Canonical Allele Identifier: PA2825576188

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu1337Lys	CA050377 NM_001114382.3:c.4009G>A