Allele Registry

Canonical Allele Identifier: PA2828420582

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042552

RCV000562910

RCV000713934

RCV001079491

ClinVar Variation:

49293

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1407Arg	CA020293 NM_001370405.1:c.4220C>G