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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:
PA2826823827
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1762593
ClinVar RCV Id:
RCV002412542
RCV003464492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280119.1:p.Gly263_Asp264insAlaGly
CA2580063095
NM_001293190.2:c.785_790dup