ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730908
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
993135
ClinVar RCV Id:
RCV001284288
RCV002418874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu750Ile
CA10597506
NM_007300.4:c.2248C>A