ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287976
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
34216
ClinVar RCV:
RCV000020536
ClinVar Variation:
21364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Ala273Thr
CA341975
NM_001206855.3:c.817G>A