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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:
PA2826308479
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1805502
ClinVar RCV Id:
RCV002471920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229815.2:p.Gly23Val
CA367532096
NM_001242886.2:c.68G>T