Allele Registry

Canonical Allele Identifier: PA2828417471

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055200

RCV000688733

RCV001011980

RCV001085948

ClinVar Variation:

64996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg505Gln	CA015034 NM_001370405.1:c.1514G>A