Allele Registry

Canonical Allele Identifier: PA2829983378

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59111

ClinVar RCV:

RCV000043216

RCV001366989

RCV002247426

ClinVar Variation:

49949

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ser1680Pro	CA022058 NM_021055.3:c.5038T>C