ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591746
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Asp202Asn
CA2277359
NM_001281725.2:c.604G>A