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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:
PA1139690871
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927298
ClinVar RCV Id:
RCV001190510
RCV003759025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Glu894Val
CA346760527
NM_001281494.2:c.2681A>T