ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996366
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423223
ClinVar RCV Id:
RCV000637435
RCV000573359
RCV000586479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu453Gln
CA057176
NM_007300.4:c.1357G>C