ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285283
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
89060
ClinVar RCV Id:
RCV000074582
RCV000195893
RCV002453379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1207Glu
CA002313
NM_007294.4:c.3619A>G