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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:
PA2826825626
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
631397
ClinVar RCV Id:
RCV000777590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Glu313Gly
CA340134028
NM_001293191.2:c.938A>G