Allele Registry

Canonical Allele Identifier: PA2827006373

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000538015

RCV001049757

RCV001779000

RCV002431636

RCV003999342

ClinVar Variation:

468187

846454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Met227Ile	CA394313332 NM_001318829.2:c.681G>A CA394313336 NM_001318829.2:c.681G>C CA394313340 NM_001318829.2:c.681G>T