Allele Registry

Canonical Allele Identifier: PA658805075

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529696

ClinVar RCV:

RCV000644152

RCV003162911

ClinVar Variation:

535922

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1360Lys	CA050377 NM_000548.5:c.4078G>A