Allele Registry

Canonical Allele Identifier: PA2828413623

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58689

ClinVar RCV:

RCV000042787

RCV000660346

ClinVar Variation:

49527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gly1160Arg	CA019365 NM_001370404.1:c.3478G>A CA394289756 NM_001370404.1:c.3478G>C