Allele Registry

Canonical Allele Identifier: PA2827005021

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58489

ClinVar RCV:

RCV000042587

RCV001383217

ClinVar Variation:

49327

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.His1517Tyr	CA021147 NM_001318827.2:c.4549C>T