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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:
PA2825427124
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1368333
ClinVar RCV Id:
RCV001894618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041636.2:p.Gln435Leu
CA340132671
NM_001048171.2:c.1304A>T