Allele Registry

Canonical Allele Identifier: PA2827003108

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042500

RCV000201071

ClinVar Variation:

49241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg952Pro	CA018497 NM_001318827.2:c.2855G>C