ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057721164
Gene: BRIP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005401039
ClinVar Variation:
3894000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Gln499Lys
CA400481438
NM_032043.3:c.1495C>A