Allele Registry

Canonical Allele Identifier: PA2829973127

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055502

RCV000760985

ClinVar Variation:

65281

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu448Pro	CA014458 NM_021055.3:c.1343T>C