ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827274362
Gene: BAZ2B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316787.1:p.Pro530Leu
CA1924884
NM_001329858.2:c.1589C>T