ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579983400
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.9311732923
Score
-1.7087486221
Score
-1.6745908585
Linked Data - NCBI & NCI
ClinVar Allele:
853782
ClinVar RCV:
RCV001076624
ClinVar Variation:
867844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1736Asp
CA10591121
NM_007294.4:c.5207T>A