Allele Registry

Canonical Allele Identifier: PA2827018753

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477343

ClinVar RCV:

RCV000562552

RCV001853809

ClinVar Variation:

486673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Lys1073Met	CA045694 NM_001318832.2:c.3218A>T