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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:
PA2827556707
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2107339
ClinVar RCV Id:
RCV003029162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337579.1:p.Leu119Val
CA340134754
NM_001350650.2:c.355C>G