ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741995241
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2680320
ClinVar RCV Id:
RCV003460292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Leu1170Phe
CA400478488
NM_032043.3:c.3508C>T