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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:
PA2825431336
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918380
ClinVar RCV Id:
RCV001175948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041639.1:p.Ser231Ala
CA340134773
NM_001048174.1:c.691T>G