Allele Registry

Canonical Allele Identifier: PA2827005938

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055443

RCV000573567

RCV000989413

RCV001555447

ClinVar Variation:

65223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg49Trp	CA018319 NM_001318829.2:c.145C>T