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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:
PA2825430353
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
630940
ClinVar RCV Id:
RCV000776962
RCV004001486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Thr436Ile
CA340132663
NM_001048173.1:c.1307C>T