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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:
PA2826823092
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135987
ClinVar RCV Id:
RCV000123150
RCV000131635
RCV000485844
RCV001260346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280119.1:p.Ala13Val
CA013492
NM_001293190.2:c.38C>T