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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:
PA2826626135
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960050
ClinVar RCV Id:
RCV001233505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Lys407Thr
CA346747012
NM_001281492.2:c.1220A>C