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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:
PA2827558377
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185272
ClinVar RCV Id:
RCV000164662
RCV000233366
RCV000482719
RCV000656911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337580.1:p.Arg274Cys
CA012396
NM_001350651.2:c.820C>T