Allele Registry

Canonical Allele Identifier: PA2829983628

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu1701Pro	CA022245 NM_021055.3:c.5102T>C