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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:
PA2826825506
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1764218
ClinVar RCV Id:
RCV002373339
RCV003099998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Val272Met
CA340134531
NM_001293191.2:c.814G>A