Allele Registry

Canonical Allele Identifier: PA2828417083

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.His385Arg	CA028650 NM_001370405.1:c.1154A>G