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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:
PA2825088803
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1780985
ClinVar RCV Id:
RCV002412672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Ser611Thr
CA346749556
NM_000179.3:c.1832G>C