ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692327
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54790
ClinVar RCV Id:
RCV000112012
RCV000167200
RCV000500983
RCV001368543
RCV002292464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu1013Ala
CA002071
NM_007297.4:c.3038A>C