Allele Registry

Canonical Allele Identifier: PA2828095372

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59122

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1677Gln	CA022218 NM_001363528.2:c.5030G>A CA645572657 NM_001363528.2:c.5030_5031delinsAA