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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:
PA2826632335
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918990
ClinVar RCV Id:
RCV001176902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268422.1:p.Thr664Asn
CA346756093
NM_001281493.2:c.1991C>A