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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:
PA2826632964
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486896
ClinVar RCV Id:
RCV000569041
RCV001307797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268422.1:p.Asn809His
CA346758718
NM_001281493.2:c.2425A>C