ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829424146
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2068171
ClinVar RCV Id:
RCV002970953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Val191Ala
CA4386796
NM_003227.4:c.572T>C