Allele Registry

Canonical Allele Identifier: PA2825439558

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Leu1677Pro	CA022245 NM_001077183.3:c.5030T>C