ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665911
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479258
ClinVar RCV Id:
RCV000575906
RCV001295765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser378Gly
CA10599793
NM_007294.4:c.1132A>G