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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:
PA2580116001
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2104449
ClinVar RCV Id:
RCV003022504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Lys312Thr
CA350454955
NM_000465.4:c.935A>C