Allele Registry

Canonical Allele Identifier: PA262946

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58991

ClinVar RCV:

RCV000043095

RCV000190032

RCV001022345

RCV001088217

ClinVar Variation:

49829

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1452Leu	CA020322 NM_000548.5:c.4355C>T