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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:
PA2827558608
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
998698
ClinVar RCV Id:
RCV001294588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337580.1:p.Val343Leu
CA21835704
NM_001350651.2:c.1027G>C