ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826288153
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049318
ClinVar RCV Id:
RCV001355279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Glu529Gln
CA368522741
NM_001206855.3:c.1585G>C