Allele Registry

Canonical Allele Identifier: PA658680514

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000523784

RCV002438264

RCV003512053

ClinVar Variation:

453076

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gln371Arg	CA394318377 NM_000548.5:c.1112A>G