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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:
PA2825429640
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
483931
ClinVar RCV Id:
RCV000567047
RCV001371217
RCV003478260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001041638.1:p.Gly205Arg
CA058769
NM_001048173.1:c.613G>C