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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:
PA2826826685
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185274
ClinVar RCV Id:
RCV000164664
RCV000235834
RCV000369240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Arg121Trp
CA014196
NM_001293192.2:c.361C>T