ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827085283
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521292
ClinVar RCV Id:
RCV000623141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308124.1:p.Ile244Phe
CA355555354
NM_001321195.3:c.730A>T