ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580472141
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1730646
ClinVar RCV Id:
RCV002454784
RCV003775602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Glu1122Gln
CA400478889
NM_032043.3:c.3364G>C