ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993177
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37597
ClinVar RCV Id:
RCV000031178
RCV000162878
RCV000479568
RCV001389264
RCV001357179
RCV002250476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Arg391Lys
CA002875
NM_007299.4:c.1172G>A