ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999559
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54878
ClinVar RCV Id:
RCV000077548
RCV000221866
RCV000765364
RCV001296484
RCV000590692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1142Pro
CA002215
NM_007300.4:c.3424G>C