ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705824
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2124828
ClinVar RCV Id:
RCV003057355
RCV003477036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1482Asn
CA10592775
NM_007300.4:c.4445G>A