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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:
PA2826653685
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1782531
ClinVar RCV Id:
RCV002410564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269474.1:p.Ala187Gly