Allele Registry

Canonical Allele Identifier: PA264627

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76128

ClinVar RCV:

RCV000055413

RCV000539242

RCV000765261

RCV001355778

ClinVar Variation:

65196

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu345Phe	CA013622 NM_000548.5:c.1033C>T