ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452500
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-6.7215026852
Score
-2.5257061763
Score
-2.9474278579
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000258372
ClinVar Variation:
267594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile1766Asn
CA10590955
NM_007294.4:c.5297T>A