ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698164
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240822
ClinVar RCV Id:
RCV000230445
RCV001072911
RCV002347900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1762Ile
CA10583546
NM_007297.4:c.5284G>A