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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:
PA2826825427
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862299
ClinVar RCV Id:
RCV001068994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Trp246Ser
CA340134746
NM_001293191.2:c.737G>C