Allele Registry

Canonical Allele Identifier: PA2828091299

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001359632

RCV001704636

RCV002402406

ClinVar Variation:

421682

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ile531Met	CA16620088 NM_001363528.2:c.1593C>G