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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:
PA2826828995
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186410
ClinVar RCV Id:
RCV000166002
RCV001762383
RCV003765038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280124.1:p.Pro442Leu
CA012713
NM_001293195.2:c.1325C>T