ClinGen Allele Registry
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Canonical Allele Identifier:
PA288534
Gene: BRIP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133619
ClinVar RCV:
RCV000116130
RCV000196018
RCV000212315
RCV000410174
RCV000412043
RCV001192970
RCV003315649
RCV004528811
ClinVar Variation:
128162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Arg579Cys
CA288532
NM_032043.3:c.1735C>T