ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829710122
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577117
RCV001076804
ClinVar Variation:
55532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1799Tyr
CA003493
NM_007300.4:c.5395G>T