Allele Registry

Canonical Allele Identifier: PA2825577692

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000569459

RCV000702221

RCV001532311

ClinVar Variation:

486634

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Pro1743Ser	CA054989 NM_001114382.3:c.5227C>T