ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663767
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485454
ClinVar RCV Id:
RCV000575730
RCV001858368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Thr1062Ile
CA8690390
NM_032043.3:c.3185C>T