ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012443
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.1:p.Ala82Val
CA278170
NM_001281726.1:c.245C>T