Allele Registry

Canonical Allele Identifier: PA658804878

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529529

ClinVar RCV:

RCV000644157

RCV002422324

RCV004004003

ClinVar Variation:

535927

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val67Ile	CA035477 NM_000548.5:c.199G>A