ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268017
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54767
ClinVar RCV Id:
RCV000111995
RCV000481809
RCV001363320
RCV001800360
RCV002319435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1027Asn
CA002018
NM_007294.4:c.3080G>A