Allele Registry

Canonical Allele Identifier: PA645433076

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000734482

RCV001019085

RCV001051568

RCV001083071

RCV002258838

RCV003329362

RCV003998821

ClinVar Variation:

238014

823131

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asn1064Lys	CA044699 NM_000548.5:c.3192C>A CA394285620 NM_000548.5:c.3192C>G