ClinGen Allele Registry
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Canonical Allele Identifier:
PA266637
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.2233314452
Score
-2.6353416209
Score
-2.3939142894
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000048864
RCV000077609
RCV001190130
RCV003321494
ClinVar Variation:
55462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1738Glu
CA003365
NM_007294.4:c.5213G>A