Allele Registry

Canonical Allele Identifier: PA2827008800

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043035

RCV000190021

RCV000190880

RCV002453340

RCV002490595

RCV004537174

ClinVar Variation:

49770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1108Trp	CA019313 NM_001318829.2:c.3322C>T