ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820540
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523689
ClinVar RCV Id:
RCV000627118
RCV000709469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile1473Thr
CA060047
NM_007300.4:c.4418T>C