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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:
PA2827101856
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371065
ClinVar RCV Id:
RCV001878804
RCV002422936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Asp564Asn
CA366738009
NM_001322003.2:c.1690G>A