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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:
PA2825428750
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1771785
ClinVar RCV Id:
RCV002389262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041637.1:p.Thr440Asn
CA340132649
NM_001048172.1:c.1319C>A