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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:
PA2825429725
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481819
ClinVar RCV Id:
RCV000561322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Ser231Phe
CA340134770
NM_001048173.1:c.692C>T