Allele Registry

Canonical Allele Identifier: PA2826288139

Gene: TFR2 HGNC NCBI

ClinVar RCV:

RCV000005715

ClinVar Variation:

5384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001193784.1:p.Gln519Pro	CA340411 NM_001206855.3:c.1556A>C