ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828504028
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1356241
ClinVar RCV Id:
RCV001880383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361257.1:p.Thr238Pro
CA355552336
NM_001374328.1:c.712A>C