Allele Registry

Canonical Allele Identifier: PA2825577444

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58512

ClinVar RCV:

RCV000042610

RCV000517378

ClinVar Variation:

49350

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Pro1686Arg	CA021789 NM_001114382.3:c.5057C>G