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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:
PA2827557353
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141614
ClinVar RCV Id:
RCV000130207
RCV000212718
RCV000198237
RCV000656912
RCV002505107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337579.1:p.Ala330Thr
CA012742
NM_001350650.2:c.988G>A