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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:
PA2826463593
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91270
ClinVar RCV Id:
RCV000076775
RCV001554291
RCV003593904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Leu264Pro
CA022706
NM_001258281.1:c.791T>C