Allele Registry

Canonical Allele Identifier: PA916023403

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477320

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.His396Arg	CA028650 NM_001318832.2:c.1187A>G