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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:
PA2826628527
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422644
ClinVar RCV Id:
RCV000484936
RCV000573926
RCV000706792
RCV004003383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Thr1045Ile
CA071114
NM_001281492.2:c.3134C>T