ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829709222
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214759
RCV001076641
RCV001245538
ClinVar Variation:
231376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1762Ile
CA10580493
NM_007300.4:c.5284G>A