ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995600
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482933
ClinVar RCV Id:
RCV000574618
RCV003645047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asn268Asp
CA10600479
NM_007300.4:c.802A>G