Allele Registry

Canonical Allele Identifier: PA2827017184

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401406

ClinVar RCV:

RCV000458732

RCV002365618

ClinVar Variation:

406031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro243Ser	CA056156 NM_001318832.2:c.727C>T