ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826730230
Gene: BORA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273675.2:p.Pro553Leu
CA7000821
NM_001286746.3:c.1658C>T