ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820536
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.3964333268
Score
-1.4121316968
Score
-1.6347310411
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000637802
RCV001076846
ClinVar Variation:
531438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1788Ala
CA10590739
NM_007294.4:c.5363G>C