Allele Registry

Canonical Allele Identifier: PA319391

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189932

RCV000218843

RCV000458406

RCV003996870

ClinVar Variation:

207685

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1476Lys	CA051101 NM_000548.5:c.4426G>A