ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118496
Gene: BUB1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001202.4:p.Arg814His
CA118494
NM_001211.5:c.2441G>A