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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:
PA2828749928
Gene: UMOD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12256
ClinVar RCV Id:
RCV002251319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365163.1:p.Cys217Arg
CA256240
NM_001378234.1:c.649T>C