ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579758008
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3102310495
Score
0.0901450445
Score
-0.0747085352
Linked Data - NCBI & NCI
ClinVar Allele:
853349
ClinVar RCV:
RCV001077398
ClinVar Variation:
868487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1812Thr
CA10590562
NM_007294.4:c.5434C>A