Allele Registry

Canonical Allele Identifier: PA2827000171

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000549108

RCV001014482

RCV003459239

RCV003999266

ClinVar Variation:

467927

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Lys72Arg	CA394303587 NM_001318827.2:c.215A>G