Allele Registry

Canonical Allele Identifier: PA2827016201

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042603

ClinVar Variation:

49343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser1440Pro	CA021580 NM_001318831.2:c.4318T>C