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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:
PA2826308772
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2093589
ClinVar RCV Id:
RCV002996829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229816.2:p.Gly23Asp
CA367532101
NM_001242887.2:c.68G>A