Allele Registry

Canonical Allele Identifier: PA2827004099

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1257Lys	CA050377 NM_001318827.2:c.3769G>A