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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:
PA2825092143
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1039964
ClinVar RCV Id:
RCV001343533
RCV002350629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Thr1238Pro
CA46719365
NM_000179.3:c.3712A>C