ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169410
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.6862511334
Score
-2.3507568424
Score
-2.354943895
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000048948
RCV000112624
RCV000132201
RCV000236823
ClinVar Variation:
55541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1780Pro
CA003508
NM_007294.4:c.5339T>C