Allele Registry

Canonical Allele Identifier: PA2827007320

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042905

RCV000189989

RCV000491813

RCV000539587

RCV000768117

ClinVar Variation:

49643

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg562Trp	CA015914 NM_001318829.2:c.1684C>T CA645594269 NM_001318829.2:c.1683_1684delinsTT