Allele Registry

Canonical Allele Identifier: PA2827009841

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042746

RCV000055499

RCV001232925

RCV004537245

ClinVar Variation:

49486

65278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gln1439His	CA020854 NM_001318829.2:c.4317G>C CA020857 NM_001318829.2:c.4317G>T