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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:
PA2826464694
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
632898
ClinVar RCV Id:
RCV000780436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Asn530_Asp531delinsGly
CA913189959
NM_001258281.1:c.1588_1592delinsGG