Allele Registry

Canonical Allele Identifier: PA2828416300

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189958

RCV000229518

RCV002327021

RCV003996876

ClinVar Variation:

207700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Lys144Arg	CA050850 NM_001370405.1:c.431A>G