ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689901
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_009228.2:p.Leu549Val
CA001158
NM_007297.4:c.1645C>G