ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829679212
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492029
ClinVar RCV Id:
RCV001989084
RCV003156987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser689Thr
CA10597871
NM_007294.4:c.2066G>C