Allele Registry

Canonical Allele Identifier: PA2827010431

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu1629Pro	CA022245 NM_001318829.2:c.4886T>C