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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:
PA2826628532
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1732314
ClinVar RCV Id:
RCV002459367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Arg1046Thr
CA346760222
NM_001281492.2:c.3137G>C