ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709947
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54247
ClinVar RCV Id:
RCV000111876
RCV000775193
RCV000781002
RCV002250525
RCV003493427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Cys47Phe
CA000952
NM_007299.4:c.140G>T