ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826652484
Gene: BARD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
472539
ClinVar RCV:
RCV000568292
RCV000635905
RCV003313105
ClinVar Variation:
481379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269472.1:p.Ala594Glu
CA2090152
NM_001282543.2:c.1781C>A