ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328002
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_009225.1:p.Asp1778Tyr
CA003493
NM_007294.4:c.5332G>T