ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758039
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3377990952
Score
0.4886663216
Score
0.3098426503
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000807420
RCV001077366
RCV001178400
ClinVar Variation:
651964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Cys
CA10590655
NM_007294.4:c.5407G>T