ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580472256
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002929058
ClinVar Variation:
2065400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Phe1234Ser
CA400477791
NM_032043.3:c.3701T>C