ClinGen Allele Registry
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Canonical Allele Identifier:
PA267802
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.6032487317
Score
-1.9409821168
Score
-3.6899937703
Score
-3.7341983808
Score
-3.0047282529
Score
-2.3904806946
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000111654
RCV000496411
RCV001254329
RCV001798249
ClinVar Variation:
55559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met18Lys
CA003549
NM_007294.4:c.53T>A