ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829708022
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865538
ClinVar RCV Id:
RCV001072977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His1694Pro
CA10591481
NM_007300.4:c.5081A>C