ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580452991
Gene: BORA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079084.4:p.Pro553Leu
CA7000821
NM_024808.5:c.1658C>T