Allele Registry

Canonical Allele Identifier: PA109578

Gene: TFR2 HGNC NCBI

ClinVar RCV:

RCV000005715

ClinVar Variation:

5384

HGVS (amino-acid)	Matching Registered Transcripts
NP_003218.2:p.Gln690Pro	CA340411 NM_003227.4:c.2069A>C