ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194055
Gene: BARD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
181781
ClinVar RCV:
RCV000165715
RCV000206723
RCV000679334
RCV002469037
ClinVar Variation:
186171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Ser538Asn
CA194054
NM_000465.4:c.1613G>A