Allele Registry

Canonical Allele Identifier: PA658805056

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530210

ClinVar RCV:

RCV000644221

RCV001565707

RCV004004016

ClinVar Variation:

535973

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1129His	CA394286758 NM_000548.5:c.3386G>A