Allele Registry

Canonical Allele Identifier: PA2827007071

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000166788

RCV000536283

RCV003995532

ClinVar Variation:

187099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ile481Val	CA015168 NM_001318829.2:c.1441A>G