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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:
PA2826309259
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2091411
ClinVar RCV Id:
RCV003013599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229817.2:p.Arg280Cys
CA367533517
NM_001242888.2:c.838C>T