ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118499
Gene: BUB1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001202.4:p.Leu1012Pro
NM_001211.5:c.3035T>C