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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:
PA2825429135
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
819581
ClinVar RCV Id:
RCV001012251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Gly39Ser
CA340136925
NM_001048173.1:c.115G>A