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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:
PA2826826785
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184896
ClinVar RCV Id:
RCV000164236
RCV000411809
RCV002463653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280121.1:p.Pro152Ser
CA014368
NM_001293192.2:c.454C>T