ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829682027
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824070
ClinVar RCV Id:
RCV001020882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1230Ile
CA10594588
NM_007294.4:c.3688T>A