ClinGen Allele Registry
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Canonical Allele Identifier:
PA268424
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.8398437045
Score
-2.4311007851
Score
-2.2621444411
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112694
RCV000236784
RCV000583863
RCV001254337
RCV002250546
ClinVar Variation:
55613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1841Asn
CA003696
NM_007294.4:c.5522G>A