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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:
PA2826825340
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925087
ClinVar RCV Id:
RCV001186828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Gly220Ser
CA340134899
NM_001293191.2:c.658G>A