ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327991
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55488
ClinVar RCV Id:
RCV000577271
RCV001072582
RCV000759559
RCV001379222
RCV001554320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1753Thr
CA003398
NM_007294.4:c.5258G>C