ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992146
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54762
ClinVar RCV Id:
RCV000111991
RCV000131933
RCV001300890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn969Asp
CA002002
NM_007297.4:c.2905A>G