Allele Registry

Canonical Allele Identifier: PA2828095420

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400985

ClinVar RCV:

RCV000572414

RCV000589806

RCV001086420

ClinVar Variation:

406068

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ile1688Met	CA054841 NM_001363528.2:c.5064C>G