ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687102
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55400
ClinVar RCV Id:
RCV000112724
RCV000130039
RCV000487016
RCV000656995
RCV001089404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg123Gln
CA003240
NM_007297.4:c.368G>A