ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826288077
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_001193784.1:p.Val451Met
CA4386258
NM_001206855.3:c.1351G>A