ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167200
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54979
ClinVar RCV Id:
RCV000048302
RCV000130833
RCV000112164
RCV002228165
RCV001719802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1241Tyr
CA002389
NM_007294.4:c.3722C>A