Allele Registry

Canonical Allele Identifier: PA2828095243

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043198

RCV000201077

ClinVar Variation:

49931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1647Pro	CA021846 NM_001363528.2:c.4940G>C