ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591630
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Ala142Pro
CA351606186
NM_001281725.2:c.424G>C