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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:
PA2829726303
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1491188
ClinVar RCV Id:
RCV001986342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036354.1:p.Leu282Arg
CA340134563
NM_012222.3:c.845T>G