ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829721000
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1024Arg
CA002015
NM_007300.4:c.3072C>G
CA058135
NM_007300.4:c.3072C>A
CA10595848
NM_007300.4:c.3070A>C