ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012417
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.1:p.Gly45Arg
CA081801
NM_001281726.1:c.133G>A
CA081852
NM_001281726.1:c.133G>A
CA241269
NM_001281726.1:c.133G>A
CA351602869
NM_001281726.1:c.133G>C