ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996684
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54290
ClinVar RCV Id:
RCV000480207
RCV000775177
RCV001301720
RCV001194434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys519Gln
CA001041
NM_007300.4:c.1555A>C