Allele Registry

Canonical Allele Identifier: PA2825436317

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242250

ClinVar RCV:

RCV000227175

RCV002429100

ClinVar Variation:

237984

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ile723Phe	CA10583306 NM_001077183.3:c.2167A>T