Allele Registry

Canonical Allele Identifier: PA2828415462

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59111

ClinVar RCV:

RCV000043216

RCV001366989

RCV002247426

ClinVar Variation:

49949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser1679Pro	CA022058 NM_001370404.1:c.5035T>C