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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:
PA2827132885
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822225
ClinVar RCV Id:
RCV001017405
RCV001873294
RCV003461361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Leu186Pro
CA366742744
NM_001322013.1:c.557T>C