ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579983279
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.2365839836
Score
-0.2138269762
Score
-0.2613702453
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072258
ClinVar Variation:
864953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1838Ala
CA10590292
NM_007294.4:c.5513T>C