Allele Registry

Canonical Allele Identifier: PA2827015800

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042778

RCV001852890

ClinVar Variation:

49518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Tyr1327Cys	CA020940 NM_001318831.2:c.3980A>G