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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:
PA2825428798
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1772772
ClinVar RCV Id:
RCV002394428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041637.1:p.His455Tyr
CA340132562
NM_001048172.1:c.1363C>T