Allele Registry

Canonical Allele Identifier: PA263136

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043361

RCV000820413

ClinVar Variation:

50095

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1578Pro	CA020960 NM_000548.5:c.4733T>C