Allele Registry

Canonical Allele Identifier: PA645431888

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000462431

RCV002393093

ClinVar Variation:

406037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ile346Val	CA16615037 NM_000548.5:c.1036A>G