Allele Registry

Canonical Allele Identifier: PA2825577594

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055513

RCV001814036

ClinVar Variation:

65291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1720Leu	CA022229 NM_001114382.3:c.5159G>T