ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580472140
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2059395
ClinVar RCV Id:
RCV002933707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Asp1120His
CA400478906
NM_032043.3:c.3358G>C