ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169673
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1473721
ClinVar RCV Id:
RCV002005336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Val750Phe
CA350449994
NM_000465.4:c.2248G>T