ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687312
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55655
ClinVar RCV Id:
RCV000112756
RCV000130801
RCV000482679
RCV001341240
RCV003607228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp172Asn
CA003776
NM_007297.4:c.514G>A