Allele Registry

Canonical Allele Identifier: PA2827004857

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58680

ClinVar RCV:

RCV000042778

RCV001852890

ClinVar Variation:

49518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Tyr1468Cys	CA020940 NM_001318827.2:c.4403A>G