Allele Registry

Canonical Allele Identifier: PA2829978261

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055098

RCV000491308

ClinVar Variation:

64897

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu1018Pro	CA018665 NM_021055.3:c.3053T>C