ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263554
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176863
ClinVar RCV Id:
RCV001532590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Gly168Val
CA368535011
NM_003227.4:c.503G>T