Allele Registry

Canonical Allele Identifier: PA2825575191

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042500

RCV000201071

ClinVar Variation:

49241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1032Pro	CA018497 NM_001114382.3:c.3095G>C