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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:
PA2826625948
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932698
ClinVar RCV Id:
RCV001200626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Glu363Lys
CA346745983
NM_001281492.2:c.1087G>A