ClinGen Allele Registry
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Canonical Allele Identifier:
PA165828
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54743
ClinVar RCV Id:
RCV000048035
RCV000111978
RCV000130154
RCV000159911
RCV000656789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1000_Glu1001del
CA001949
NM_007294.4:c.2998_3003del