Allele Registry

Canonical Allele Identifier: PA2827005785

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034666

RCV000467233

RCV001024070

RCV001081523

RCV002348290

ClinVar Variation:

41749

405942

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Phe1703Leu	CA022504 NM_001318827.2:c.5109T>G CA16615055 NM_001318827.2:c.5107T>C CA394316293 NM_001318827.2:c.5109T>A