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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:
PA2827122399
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926365
ClinVar RCV Id:
RCV001188924
RCV003594117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Val274Ala
CA366742727
NM_001322008.2:c.821T>C