Allele Registry

Canonical Allele Identifier: PA2828412387

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000456253

RCV002451090

RCV004000723

ClinVar Variation:

406123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Met788Ile	CA038757 NM_001370404.1:c.2364G>A CA394276962 NM_001370404.1:c.2364G>C CA394276964 NM_001370404.1:c.2364G>T