ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829701173
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_009229.2:p.Gln617del
CA003313
NM_007298.3:c.1849_1851del