Allele Registry

Canonical Allele Identifier: PA2828094443

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055424

RCV001230160

RCV003332112

ClinVar Variation:

65206

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Pro1431Ser	CA020513 NM_001363528.2:c.4291C>T