ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580289415
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2325490
ClinVar RCV Id:
RCV002906566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Val622Met
CA4386258
NM_003227.4:c.1864G>A