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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:
PA2825426427
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2836859
ClinVar RCV Id:
RCV003613997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041636.2:p.Asp208Tyr
CA340134910
NM_001048171.2:c.622G>T