ClinGen Allele Registry
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Canonical Allele Identifier:
PA249623
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.8433590603
Score
-1.757350408
Score
-1.6797151808
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000031241
RCV000048961
RCV000162885
RCV000235698
RCV001002191
ClinVar Variation:
37660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1788Val
CA003530
NM_007294.4:c.5363G>T