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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:
PA2825088293
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2161350
ClinVar RCV Id:
RCV003078528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Cys496Gly
CA346746070
NM_000179.3:c.1486T>G