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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:
PA916005972
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427155
ClinVar RCV Id:
RCV000489419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229819.2:p.Ile24Thr
CA367532085
NM_001242890.2:c.71T>C