ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294474
Gene: BRIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Lys968Glu
CA294472
NM_032043.3:c.2902A>G