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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:
PA2826825328
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406846
ClinVar RCV Id:
RCV000570183
RCV000474962
RCV000759167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Gly216Ser
CA16610136
NM_001293191.2:c.646G>A