ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997888
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419022
ClinVar RCV Id:
RCV000479023
RCV000794192
RCV001015420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys801Arg
CA10597206
NM_007300.4:c.2401T>C