ClinGen Allele Registry
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Canonical Allele Identifier:
PA166288
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130375
RCV000218503
RCV000234009
RCV000410258
RCV000411419
RCV001030534
RCV001356230
RCV003315890
RCV003320104
ClinVar Variation:
141744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Arg814His
CA166286
NM_032043.3:c.2441G>A