ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828504379
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2105770
ClinVar RCV Id:
RCV003023627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361258.1:p.Lys273Arg
CA355552088
NM_001374329.1:c.818A>G