Allele Registry

Canonical Allele Identifier: PA264564

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76034

ClinVar RCV:

RCV000055314

RCV000533936

RCV001553178

RCV002255276

ClinVar Variation:

65103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg208Trp	CA022695 NM_000548.5:c.622C>T