ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826652971
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479128
ClinVar RCV Id:
RCV000568220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269472.1:p.Val731Leu
CA350449996
NM_001282543.2:c.2191G>C