ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579983454
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.8131094738
Score
-1.6980571481
Score
-1.4396375127
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072190
RCV002339351
ClinVar Variation:
864899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1689Lys
CA10591388
NM_007294.4:c.5066T>A