Allele Registry

Canonical Allele Identifier: PA2827019098

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042787

RCV000660346

ClinVar Variation:

49527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly1171Arg	CA019365 NM_001318832.2:c.3511G>A CA394289756 NM_001318832.2:c.3511G>C