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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:
PA2580151804
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1758837
ClinVar RCV Id:
RCV003614133
RCV002384978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121897.1:p.Leu415Val
CA340132979
NM_001128425.2:c.1243C>G