ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828504592
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2124963
ClinVar RCV Id:
RCV003039880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361259.1:p.Ser148Asn
CA355552356
NM_001374330.1:c.443G>A