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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:
PA2825428010
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229778
ClinVar RCV Id:
RCV000222437
RCV000460674
RCV000589976
RCV001175349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041637.1:p.Ala200Thr
CA058577
NM_001048172.1:c.598G>A