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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:
PA2580373552
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721462
ClinVar RCV Id:
RCV002300440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036354.1:p.Ser49Cys
CA340136957
NM_012222.3:c.146C>G