Allele Registry

Canonical Allele Identifier: PA891853455

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1444Leu	CA276753419 NM_000548.5:c.4331C>T