Allele Registry

Canonical Allele Identifier: PA2829983385

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001887213

RCV002334832

ClinVar Variation:

1395605

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Gln1681Glu	CA394313923 NM_021055.3:c.5041C>G