ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741912120
Gene: BUB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004327.1:p.Ile382Val
CA348214319
NM_004336.5:c.1144A>G