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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:
PA2826830320
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134867
ClinVar RCV Id:
RCV000121602
RCV000131522
RCV000457983
RCV000656914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280125.1:p.Pro396Leu
CA012986
NM_001293196.2:c.1187C>T