ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743041
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657685
ClinVar RCV Id:
RCV000814343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357682.1:p.Gln60Pro
CA351603644
NM_001370753.1:c.179A>C