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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:
PA2826823882
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182692
ClinVar RCV Id:
RCV000160755
RCV000214420
RCV000459211
RCV001797643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280119.1:p.Arg281Cys
CA014535
NM_001293190.2:c.841C>T