ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741844292
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2657750
ClinVar RCV Id:
RCV003423671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Arg89Leu
CA368533929
NM_001206855.3:c.266G>T