ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693706
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000569497
RCV002526772
RCV003151790
RCV003999525
ClinVar Variation:
479231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1250Pro
CA10594183
NM_007297.4:c.3748T>C