ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475358
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243117
ClinVar RCV Id:
RCV000236030
RCV001337193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Glu748Lys
CA10584170
NM_000465.4:c.2242G>A