ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997037
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54347
ClinVar RCV Id:
RCV000111683
RCV001013178
RCV001368144
RCV002265583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu596Val
CA001158
NM_007300.4:c.1786C>G