ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168911
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111991
RCV000131933
RCV001300890
ClinVar Variation:
54762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn1016Asp
CA002002
NM_007294.4:c.3046A>G