ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000562
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462629
ClinVar RCV Id:
RCV000544160
RCV000565791
RCV001284396
RCV001821530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1349Arg
CA10593867
NM_007300.4:c.4046C>G