Allele Registry

Canonical Allele Identifier: PA263159

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59281

ClinVar RCV:

RCV000043386

RCV002273946

ClinVar Variation:

50119

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu733Pro	CA016906 NM_000548.5:c.2198T>C