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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:
PA2826829002
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186417
ClinVar RCV Id:
RCV000166009
RCV000687139
RCV001284314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280124.1:p.Gly444Arg
CA012731
NM_001293195.2:c.1330G>C