ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826592543
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049760
ClinVar RCV Id:
RCV001356279
RCV002476631
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.2:p.Pro126Arg
CA2277308
NM_001281726.2:c.377C>G