ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195971
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Tyr418His
CA351608527
NM_001323582.1:c.1252T>C