ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758032
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2116896646
Score
0.3254754044
Score
0.240019049
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076052
ClinVar Variation:
867377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Asp
CA10590635
NM_007294.4:c.5413C>G