ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328018
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3752515156
Score
0.1758438717
Score
-0.0838730474
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577579
RCV001076054
ClinVar Variation:
55569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Pro
CA003579
NM_007294.4:c.5414A>C