ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691427
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531320
ClinVar RCV Id:
RCV000637557
RCV002424405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln808Arg
CA10596864
NM_007297.4:c.2423A>G