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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:
PA160939
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41755
ClinVar RCV Id:
RCV000034672
RCV000119200
RCV000121601
RCV000132436
RCV001270289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121897.1:p.Ser515Phe
CA011660
NM_001128425.2:c.1544C>T