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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:
PA2826826662
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135989
ClinVar RCV Id:
RCV000123153
RCV000131773
RCV000212704
RCV000586141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Val114Met
CA014145
NM_001293192.2:c.340G>A