Allele Registry

Canonical Allele Identifier: PA916023500

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59357

ClinVar RCV:

RCV000043464

RCV000482403

ClinVar Variation:

50195

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu477Arg	CA014742 NM_001318832.2:c.1430T>G