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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:
PA2826633558
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485868
ClinVar RCV Id:
RCV000567300
RCV000819295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268422.1:p.Ile937Arg
CA346761010
NM_001281493.2:c.2810T>G