ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828504474
Gene: TBL1XR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450828
ClinVar RCV Id:
RCV000519529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361258.1:p.Ser419Phe
CA355554540
NM_001374329.1:c.1256C>T