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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:
PA2825430522
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2124516
ClinVar RCV Id:
RCV003039654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Cys489Tyr
CA056916
NM_001048173.1:c.1466G>A