ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268339
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.293329205
Score
-2.7627024803
Score
-1.1867029449
Linked Data - NCBI & NCI
ClinVar Allele:
70100
ClinVar RCV:
RCV000112538
RCV001269394
ClinVar Variation:
55433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Trp1718Ser
CA003305
NM_007294.4:c.5153G>C