ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817194
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530337
ClinVar RCV Id:
RCV000772628
RCV000636152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ile1165Leu
CA8690356
NM_032043.3:c.3493A>C