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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:
PA2825430692
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628344
ClinVar RCV Id:
RCV000772801
RCV001869087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041639.1:p.Glu20Gln
CA340137126
NM_001048174.1:c.58G>C