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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:
PA2826720041
Gene: DKC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11591
ClinVar RCV Id:
RCV000012349
RCV000254868
RCV000816060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275676.1:p.Thr49Met
CA156187
NM_001288747.2:c.146C>T