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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:
PA2826829668
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1348825
ClinVar RCV Id:
RCV002035057
RCV002370356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280125.1:p.Cys186Phe
CA340134326
NM_001293196.2:c.557G>T