Allele Registry

Canonical Allele Identifier: PA2827009154

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042541

RCV000457664

RCV001703933

RCV002354223

RCV004537163

ClinVar Variation:

49282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser1226Arg	CA019836 NM_001318829.2:c.3678C>A CA394299190 NM_001318829.2:c.3676A>C CA394299211 NM_001318829.2:c.3678C>G