ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665607
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481476
ClinVar RCV Id:
RCV000566477
RCV000802512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly129Val
CA055836
NM_007294.4:c.386G>T