ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267936
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111876
RCV000775193
RCV000781002
RCV002250525
RCV003493427
ClinVar Variation:
54247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Cys47Phe
CA000952
NM_007294.4:c.140G>T