Allele Registry

Canonical Allele Identifier: PA916023507

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001011553

ClinVar Variation:

819200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gln489Glu	CA394324088 NM_001318832.2:c.1465C>G