ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197053
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628747
ClinVar RCV Id:
RCV000773409
RCV001071988
RCV001824878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn743Ser
CA10597543
NM_007294.4:c.2228A>G