Allele Registry

Canonical Allele Identifier: PA2827000441

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76034

ClinVar RCV:

RCV000055314

RCV000533936

RCV001553178

RCV002255276

ClinVar Variation:

65103

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg171Trp	CA022695 NM_001318827.2:c.511C>T