ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012442
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.1:p.Arg79Cys
CA082670
NM_001281726.1:c.235C>T
CA082734
NM_001281726.1:c.235C>T
CA278016
NM_001281726.1:c.235C>T