ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829721105
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480995
ClinVar RCV Id:
RCV000561040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1046Gln
CA10595710
NM_007300.4:c.3136G>C