ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692048
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482925
ClinVar RCV Id:
RCV000561966
RCV001764658
RCV001326585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Cys947Tyr
CA10596038
NM_007297.4:c.2840G>A