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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:
PA2826827538
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
492022
ClinVar RCV Id:
RCV000584133
RCV004002360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Pro396Thr
CA340131863
NM_001293192.2:c.1186C>A