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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:
PA2826827206
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
566859
ClinVar RCV Id:
RCV000686787
RCV001010508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Leu295Phe
CA340132978
NM_001293192.2:c.883C>T