Allele Registry

Canonical Allele Identifier: PA319413

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189961

RCV000219746

RCV000698793

RCV003996877

ClinVar Variation:

207702

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu193Lys	CA055433 NM_000548.5:c.577G>A