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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:
PA2825428796
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
947625
ClinVar RCV Id:
RCV001218737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041637.1:p.His455Arg
CA340132559
NM_001048172.1:c.1364A>G