ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499263559
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001301310
ClinVar Variation:
1004585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Glu691del
CA2497214298
NM_003227.4:c.2071_2073del