ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193247
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165383
RCV000206269
RCV000587834
ClinVar Variation:
185883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1004Gln
CA001961
NM_007294.4:c.3010G>C