ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665753
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461180
ClinVar RCV Id:
RCV000534123
RCV000580310
RCV001125840
RCV000759716
RCV003324713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ile246Val
CA8690851
NM_032043.3:c.736A>G