Allele Registry

Canonical Allele Identifier: PA2829978393

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644134

RCV002445598

RCV002449026

RCV003128676

RCV004003999

ClinVar Variation:

535907

1729298

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Leu1037Phe	CA044925 NM_021055.3:c.3111A>C CA394286083 NM_021055.3:c.3111A>T