ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658724243
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489830
ClinVar RCV Id:
RCV000579973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Lys998Met
CA400480046
NM_032043.3:c.2993A>T