ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757775
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.0590140575
Score
-1.3711552325
Score
-2.1352672104
Linked Data - NCBI & NCI
ClinVar Allele:
621043
ClinVar RCV:
RCV000845277
RCV001072409
ClinVar Variation:
632609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Trp1718Leu
CA10591235
NM_007294.4:c.5153G>T