Allele Registry

Canonical Allele Identifier: PA2828417925

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042864

RCV000707631

RCV001013512

RCV003151740

ClinVar Variation:

49603

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg628Gly	CA016143 NM_001370405.1:c.1882C>G