ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268320
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.1747944154
Score
-1.0206278536
Score
-1.2689311363
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112484
ClinVar Variation:
55376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1692Tyr
CA003203
NM_007294.4:c.5074G>T