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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:
PA2826308681
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379626
ClinVar RCV Id:
RCV000445005
RCV000578157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229815.2:p.Arg320His
CA4262068
NM_001242886.2:c.959G>A