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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:
PA658655155
Gene: UMOD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441279
ClinVar RCV Id:
RCV002251372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003352.2:p.Gln316Pro
CA394983705
NM_003361.4:c.947A>C