ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758034
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5826642132
Score
-0.3201407424
Score
0.0815834702
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072896
ClinVar Variation:
865470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1804Ala
CA10590643
NM_007294.4:c.5411T>C