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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:
PA2826630801
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969168
ClinVar RCV Id:
RCV001244452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268422.1:p.Lys308Met
CA346749522
NM_001281493.2:c.923A>T