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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:
PA2826626426
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
658746
ClinVar RCV Id:
RCV000815628
RCV002406854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Thr475Asn
CA346749408
NM_001281492.2:c.1424C>A