ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432833
Gene: BRIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ala185Thr
CA8690910
NM_032043.3:c.553G>A