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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:
PA2825429781
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480014
ClinVar RCV Id:
RCV000574062
RCV000816254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Asp249Tyr
CA340134652
NM_001048173.1:c.745G>T