Allele Registry

Canonical Allele Identifier: PA658681225

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000565264

RCV001859982

RCV001915287

RCV002331423

ClinVar Variation:

486695

1398873

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1490Asp	CA394302506 NM_000548.5:c.4470G>C CA394302508 NM_000548.5:c.4470G>T