ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452903
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.4026898499
Score
-0.2161449014
Score
-0.1676650342
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000230445
RCV001072911
RCV002347900
ClinVar Variation:
240822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1809Ile
CA10583546
NM_007294.4:c.5425G>A