Allele Registry

Canonical Allele Identifier: PA2828415402

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58512

ClinVar RCV:

RCV000042610

RCV000517378

ClinVar Variation:

49350

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro1665Arg	CA021789 NM_001370404.1:c.4994C>G