ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191252
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185183
ClinVar RCV Id:
RCV000164552
RCV000554945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1502Gln
CA002888
NM_007294.4:c.4505C>A