ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826651317
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010445
ClinVar RCV Id:
RCV002833990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269472.1:p.Thr248Ser
CA350455627
NM_001282543.2:c.742A>T