ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449878
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409306
ClinVar RCV Id:
RCV000459678
RCV001017868
RCV003449138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1000Gly
CA10596001
NM_007294.4:c.2999A>G