Allele Registry

Canonical Allele Identifier: PA658805030

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644353

RCV001558093

RCV002422327

RCV004004042

ClinVar Variation:

536065

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg749Trp	CA037721 NM_000548.5:c.2245C>T