Allele Registry

Canonical Allele Identifier: PA2827002240

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242250

ClinVar RCV:

RCV000227175

RCV002429100

ClinVar Variation:

237984

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ile686Phe	CA10583306 NM_001318827.2:c.2056A>T