ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826288128
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410078
ClinVar RCV Id:
RCV002230394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Gly508Glu
CA16612212
NM_001206855.3:c.1523G>A