ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803474
Gene: BARD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
517781
ClinVar RCV:
RCV000635932
ClinVar Variation:
530202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Leu390Ile
CA350453886
NM_000465.4:c.1168C>A