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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:
PA2826464847
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2120063
ClinVar RCV Id:
RCV003024963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Gln563Glu
CA346728538
NM_001258281.1:c.1687C>G