Allele Registry

Canonical Allele Identifier: PA2828415553

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu1700Pro	CA022245 NM_001370404.1:c.5099T>C