Allele Registry

Canonical Allele Identifier: PA2827009469

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001070860

RCV004000195

ClinVar Variation:

863806

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1329Ser	CA394301401 NM_001318829.2:c.3985C>T