ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254612
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Ser139Asn
CA2277335
NM_001370752.1:c.416G>A