Allele Registry

Canonical Allele Identifier: PA2827000979

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000523784

RCV002438264

RCV003512053

ClinVar Variation:

453076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gln334Arg	CA394318377 NM_001318827.2:c.1001A>G