Allele Registry

Canonical Allele Identifier: PA2828421041

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042778

RCV001852890

ClinVar Variation:

49518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Tyr1528Cys	CA020940 NM_001370405.1:c.4583A>G