Allele Registry

Canonical Allele Identifier: PA2828092313

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000536678

RCV001015392

RCV001755846

ClinVar Variation:

467940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg799Cys	CA394277095 NM_001363528.2:c.2395C>T