Allele Registry

Canonical Allele Identifier: PA2827020960

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59122

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1687Gln	CA022218 NM_001318832.2:c.5060G>A CA645572657 NM_001318832.2:c.5060_5061delinsAA