ClinGen Allele Registry
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Canonical Allele Identifier:
PA168087
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.7295718901
Score
-0.3819057744
Score
-1.0179504836
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000048936
RCV000077615
RCV000131398
RCV000587684
ClinVar Variation:
55530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1778Asn
CA003491
NM_007294.4:c.5332G>A