ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195420
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186643
ClinVar RCV Id:
RCV000166271
RCV000386668
RCV000409005
RCV000411446
RCV000515765
RCV001086889
RCV001328338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ser230Leu
CA195418
NM_032043.3:c.689C>T