Allele Registry

Canonical Allele Identifier: PA2827003627

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043035

RCV000190021

RCV000190880

RCV002453340

RCV002490595

RCV004537174

ClinVar Variation:

49770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1120Trp	CA019313 NM_001318827.2:c.3358C>T