Allele Registry

Canonical Allele Identifier: PA2827005208

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75797

ClinVar RCV:

RCV000055068

RCV000469641

RCV000563588

RCV001551734

ClinVar Variation:

64868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val1570Ile	CA021497 NM_001318827.2:c.4708G>A