Allele Registry

Canonical Allele Identifier: PA2827008380

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042500

RCV000201071

ClinVar Variation:

49241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg940Pro	CA018497 NM_001318829.2:c.2819G>C