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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:
PA2826825470
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
827563
ClinVar RCV Id:
RCV001027377
RCV002552002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Asp260Asn
CA340134654
NM_001293191.2:c.778G>A