ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139713015
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864986
ClinVar RCV Id:
RCV001072300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Gln742Arg
CA10590249
NM_007298.3:c.2225A>G