Allele Registry

Canonical Allele Identifier: PA2825438431

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043391

RCV000543604

RCV001022275

ClinVar Variation:

50124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1371Gln	CA020250 NM_001077183.3:c.4112G>A