Allele Registry

Canonical Allele Identifier: PA2825439554

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59122

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1676Gln	CA022218 NM_001077183.3:c.5027G>A CA645572657 NM_001077183.3:c.5027_5028delinsAA