Allele Registry

Canonical Allele Identifier: PA2827004503

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043192

RCV000474980

RCV001022469

RCV001086757

ClinVar Variation:

49925

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Asp1375His	CA020460 NM_001318827.2:c.4123G>C