ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708801
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55439
ClinVar RCV Id:
RCV000112542
RCV000485800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1742del
CA003313
NM_007300.4:c.5224_5226del