Allele Registry

Canonical Allele Identifier: PA2827000888

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76128

ClinVar RCV:

RCV000055413

RCV000539242

RCV000765261

RCV001355778

ClinVar Variation:

65196

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu308Phe	CA013622 NM_001318827.2:c.922C>T