ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452852
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.5134580227
Score
-0.3205087035
Score
-0.3406602218
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222986
RCV000779871
RCV000823738
RCV001076893
ClinVar Variation:
232037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Ser
CA10580482
NM_007294.4:c.5407G>A