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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:
PA915970841
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
655768
ClinVar RCV Id:
RCV000812015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121897.1:p.Cys300Trp
CA340134395
NM_001128425.2:c.900C>G