ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168087
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55530
ClinVar RCV Id:
RCV000048936
RCV000077615
RCV000131398
RCV000587684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1778Asn
CA003491
NM_007294.4:c.5332G>A