Allele Registry

Canonical Allele Identifier: PA645432418

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000564827

RCV000596298

RCV001084101

RCV003998811

ClinVar Variation:

237983

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ile723Val	CA10583305 NM_000548.5:c.2167A>G