Allele Registry

Canonical Allele Identifier: PA915976339

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000521160

RCV000644179

RCV004023617

ClinVar Variation:

452681

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Pro1267Ser	CA048474 NM_001114382.3:c.3799C>T