Allele Registry

Canonical Allele Identifier: PA645431920

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226213

RCV000568157

ClinVar Variation:

237961

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu405Gln	CA028805 NM_000548.5:c.1213G>C