Allele Registry

Canonical Allele Identifier: PA107894

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1744Pro	CA022245 NM_000548.5:c.5231T>C