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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:
PA2825427681
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142812
ClinVar RCV Id:
RCV000132238
RCV000195451
RCV000212698
RCV000656907
RCV001353576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041637.1:p.Arg89Trp
CA013382
NM_001048172.1:c.265C>T