ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499292695
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1053511
ClinVar RCV Id:
RCV001361868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Leu1058Arg
CA400479439
NM_032043.3:c.3173T>G