ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579758037
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.426504344
Score
0.0581484754
Score
0.6334628056
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001077372
RCV001325729
ClinVar Variation:
868465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1804Ile
CA10590648
NM_007294.4:c.5410G>A