ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063228667
Gene: BCOR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060215.4:p.Ser1397Phe
CA327983991
NM_017745.6:c.4190C>T