ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591732
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Leu195Phe
CA278243
NM_001281725.2:c.583C>T