ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452345
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231376
ClinVar RCV Id:
RCV000214759
RCV001076641
RCV001245538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1741Ile
CA10580493
NM_007294.4:c.5221G>A