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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:
PA2825430368
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2816916
ClinVar RCV Id:
RCV003613708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Val441Ala
CA340132637
NM_001048173.1:c.1322T>C