ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711036
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143005
ClinVar RCV Id:
RCV000132524
RCV001077976
RCV002298482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1847Lys
CA003639
NM_007300.4:c.5539C>A