Allele Registry

Canonical Allele Identifier: PA2827010846

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042644

RCV000554931

RCV000612409

RCV002288539

RCV002381326

RCV003460556

ClinVar Variation:

49384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Thr197Ala	CA022910 NM_001318829.2:c.589A>G