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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:
PA2826828613
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134862
ClinVar RCV Id:
RCV000121595
RCV000123137
RCV000216934
RCV001582593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280124.1:p.Ser318Leu
CA012017
NM_001293195.2:c.953C>T