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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:
PA2826825158
Gene: MUTYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5293
ClinVar RCV Id:
RCV000005612
RCV000005613
RCV000121607
RCV000079502
RCV000144631
RCV000115766
RCV001554314
RCV002476933
RCV004528083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280120.1:p.Tyr162Cys
CA011761
NM_001293191.2:c.485A>G