ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579757952
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
868519
ClinVar RCV Id:
RCV001077436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1822Tyr
CA10590428
NM_007294.4:c.5464C>T