Allele Registry

Canonical Allele Identifier: PA334186

Gene: TFR2 HGNC NCBI

ClinVar Allele:

186057

ClinVar RCV:

RCV000168040

RCV001831985

ClinVar Variation:

188153

HGVS (amino-acid)	Matching Registered Transcripts
NP_003218.2:p.Arg678Pro	CA334185 NM_003227.4:c.2033G>C