ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339744
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020538
RCV000205036
RCV000260840
ClinVar Variation:
21365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Arg468His
CA339743
NM_003227.4:c.1403G>A