ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708127
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216672
ClinVar RCV Id:
RCV000200826
RCV001076271
RCV001023450
RCV002478710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1700Pro
CA053724
NM_007300.4:c.5099T>C