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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:
PA2826826822
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2587446
ClinVar RCV Id:
RCV003339217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Glu164Lys
CA340134583
NM_001293192.2:c.490G>A