ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327753
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000480207
RCV000775177
RCV001194434
RCV001301720
ClinVar Variation:
54290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys519Gln
CA001041
NM_007294.4:c.1555A>C