ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829709890
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54199
ClinVar RCV Id:
RCV000077486
RCV000509871
RCV000235119
RCV001386839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Cys44Tyr
CA000861
NM_007299.4:c.131G>A