Allele Registry

Canonical Allele Identifier: PA2825438930

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042778

RCV001852890

ClinVar Variation:

49518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Tyr1504Cys	CA020940 NM_001077183.3:c.4511A>G