Allele Registry

Canonical Allele Identifier: PA2827019823

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374841

ClinVar RCV:

RCV000441035

RCV001086097

RCV001119330

RCV002328977

ClinVar Variation:

388436

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro1385Ser	CA16607171 NM_001318832.2:c.4153C>T