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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:
PA2827556734
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246428
ClinVar RCV Id:
RCV000235821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337579.1:p.Asp128Gly
CA10584150
NM_001350650.2:c.383A>G