ClinGen Allele Registry
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Canonical Allele Identifier:
PA266645
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.5294538494
Score
-0.9452881261
Score
-0.6931082117
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000077620
RCV000496269
RCV001542250
RCV001781378
RCV003584537
ClinVar Variation:
55551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1788Asp
CA003529
NM_007294.4:c.5363G>A