Allele Registry

Canonical Allele Identifier: PA2829978049

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043140

RCV001216513

ClinVar Variation:

49874

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu984Pro	CA018468 NM_021055.3:c.2951T>C