Allele Registry

Canonical Allele Identifier: PA2827010944

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75797

ClinVar RCV:

RCV000055068

RCV000469641

RCV000563588

RCV001551734

ClinVar Variation:

64868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val1558Ile	CA021497 NM_001318829.2:c.4672G>A