ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA187242
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112579
RCV000148392
RCV000162992
RCV000168520
RCV000759558
RCV001085532
RCV001270285
ClinVar Variation:
55481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1751Gln
CA003390
NM_007294.4:c.5252G>A