ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663810
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
483198
ClinVar RCV Id:
RCV000574108
RCV000702483
RCV003478252
RCV003994022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ser1117Leu
CA400478921
NM_032043.3:c.3350C>T