ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689411
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418567
ClinVar RCV Id:
RCV000486910
RCV000695544
RCV002402379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys480Arg
CA057390
NM_007297.4:c.1439A>G