ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201487
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.1:p.Gln90Glu
CA2277272
NM_001281724.2:c.268C>G