ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827084005
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
666259
ClinVar RCV Id:
RCV000824684
RCV001420340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308122.1:p.His348Arg
CA355555205
NM_001321193.3:c.1043A>G