Allele Registry

Canonical Allele Identifier: PA2827020935

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242336

ClinVar RCV:

RCV000226974

RCV000564490

RCV001675679

RCV003998837

ClinVar Variation:

238078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro1681Ser	CA054437 NM_001318832.2:c.5041C>T