ClinGen Allele Registry
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Canonical Allele Identifier:
PA268316
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0867369255
Score
-0.0156965218
Score
0.0423165094
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112480
RCV000503511
RCV000509930
RCV000587374
RCV000855576
ClinVar Variation:
55369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1689Thr
CA003181
NM_007294.4:c.5066T>C