ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287983
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20422
ClinVar RCV:
RCV000005714
RCV000020537
RCV000168108
RCV001081144
RCV003914812
ClinVar Variation:
5383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Arg284Gln
CA117472
NM_001206855.3:c.851G>A