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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:
PA2827558129
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099745
ClinVar RCV Id:
RCV003021865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337580.1:p.Glu188Lys
CA340134021
NM_001350651.2:c.562G>A