Allele Registry

Canonical Allele Identifier: PA2829978086

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042500

RCV000201071

ClinVar Variation:

49241

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg989Pro	CA018497 NM_021055.3:c.2966G>C