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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:
PA2826830169
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186723
ClinVar RCV Id:
RCV000166365
RCV000197060
RCV000484811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280125.1:p.Val349Ile
CA012695
NM_001293196.2:c.1045G>A