Allele Registry

Canonical Allele Identifier: PA2827012270

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58806

ClinVar RCV:

RCV000042906

RCV000190056

RCV000475301

RCV004537172

ClinVar Variation:

49644

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser228del	CA014351 NM_001318831.2:c.683_685del