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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473908
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406752
ClinVar RCV Id:
RCV000470872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Lys312Gln
CA16610742
NM_000465.4:c.934A>C