Allele Registry

Canonical Allele Identifier: PA2827008500

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000544493

RCV002316560

RCV003999287

ClinVar Variation:

467999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1006Arg	CA045581 NM_001318829.2:c.3017C>G