ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993055
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482942
ClinVar RCV Id:
RCV000572404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Glu348Lys
CA10593023
NM_007299.4:c.1042G>A