Allele Registry

Canonical Allele Identifier: PA2573170564

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001887213

RCV002334832

ClinVar Variation:

1395605

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gln1724Glu	CA394313923 NM_000548.5:c.5170C>G