ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693876
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231080
ClinVar RCV Id:
RCV000220524
RCV003644938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1275Gln
CA10580542
NM_007297.4:c.3823A>C