ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191106
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185124
ClinVar RCV Id:
RCV000164491
RCV001077314
RCV002515141
RCV001355404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1799Ile
CA003548
NM_007294.4:c.5396C>T