Allele Registry

Canonical Allele Identifier: PA2827014844

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242292

ClinVar RCV:

RCV000325835

RCV000567501

RCV000726912

RCV001079391

RCV004532850

ClinVar Variation:

238031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Glu1063Lys	CA049623 NM_001318831.2:c.3187G>A